Target Gene/Pathway Pathway / Gene

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No.	KEGG PATHWAY On map, Yellow: Drug target, Red: All disease-related	KEGG GENES	KEGG DRUG	DrugBank	Disease ID
1	Acute myeloid leukemia 💬	[1] PIK3CA_B_D 💬 Acute myeloid leukemia × Name Full Name PIK3CA_B_D	Alpelisib 💬 Acute myeloid leukemia × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 1. Acute myeloid leukemia × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
2	Acute myeloid leukemia 💬	[1] PIK3CA_B_D 💬 Acute myeloid leukemia × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Acute myeloid leukemia × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 2. Acute myeloid leukemia × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
3	Acute myeloid leukemia 💬	[1] PIK3CA_B_D 💬 Acute myeloid leukemia × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Acute myeloid leukemia × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 3. Acute myeloid leukemia × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
4	Acute myeloid leukemia 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Acute myeloid leukemia × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Acute myeloid leukemia × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 4. Acute myeloid leukemia × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
5	Acute myeloid leukemia 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Acute myeloid leukemia × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Acute myeloid leukemia × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 5. Acute myeloid leukemia × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
6	AGE-RAGE signaling pathway in diabetic complications 💬	[1] PIK3CA_B_D 💬 AGE-RAGE signaling pathway in diabetic complications × Name Full Name PIK3CA_B_D	Alpelisib 💬 AGE-RAGE signaling pathway in diabetic complications × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 6. AGE-RAGE signaling pathway in diabetic complications × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
7	AGE-RAGE signaling pathway in diabetic complications 💬	[1] PIK3CA_B_D 💬 AGE-RAGE signaling pathway in diabetic complications × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 AGE-RAGE signaling pathway in diabetic complications × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 7. AGE-RAGE signaling pathway in diabetic complications × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
8	AGE-RAGE signaling pathway in diabetic complications 💬	[1] PIK3CA_B_D 💬 AGE-RAGE signaling pathway in diabetic complications × Name Full Name PIK3CA_B_D	Parsaclisib 💬 AGE-RAGE signaling pathway in diabetic complications × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 8. AGE-RAGE signaling pathway in diabetic complications × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
9	AGE-RAGE signaling pathway in diabetic complications 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 AGE-RAGE signaling pathway in diabetic complications × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 AGE-RAGE signaling pathway in diabetic complications × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 9. AGE-RAGE signaling pathway in diabetic complications × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
10	AGE-RAGE signaling pathway in diabetic complications 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 AGE-RAGE signaling pathway in diabetic complications × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 AGE-RAGE signaling pathway in diabetic complications × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 10. AGE-RAGE signaling pathway in diabetic complications × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
11	Aldosterone-regulated sodium reabsorption 💬	[1] PIK3CA_B_D 💬 Aldosterone-regulated sodium reabsorption × Name Full Name PIK3CA_B_D	Alpelisib 💬 Aldosterone-regulated sodium reabsorption × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 11. Aldosterone-regulated sodium reabsorption × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
12	Aldosterone-regulated sodium reabsorption 💬	[1] PIK3CA_B_D 💬 Aldosterone-regulated sodium reabsorption × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Aldosterone-regulated sodium reabsorption × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 12. Aldosterone-regulated sodium reabsorption × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
13	Aldosterone-regulated sodium reabsorption 💬	[1] PIK3CA_B_D 💬 Aldosterone-regulated sodium reabsorption × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Aldosterone-regulated sodium reabsorption × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 13. Aldosterone-regulated sodium reabsorption × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
14	Aldosterone-regulated sodium reabsorption 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Aldosterone-regulated sodium reabsorption × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Aldosterone-regulated sodium reabsorption × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 14. Aldosterone-regulated sodium reabsorption × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
15	Aldosterone-regulated sodium reabsorption 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Aldosterone-regulated sodium reabsorption × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Aldosterone-regulated sodium reabsorption × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 15. Aldosterone-regulated sodium reabsorption × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
16	Alzheimer disease 💬	[1] PIK3CA_B_D 💬 Alzheimer disease × Name Full Name PIK3CA_B_D	Alpelisib 💬 Alzheimer disease × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 16. Alzheimer disease × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
17	Alzheimer disease 💬	[1] PIK3CA_B_D 💬 Alzheimer disease × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Alzheimer disease × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 17. Alzheimer disease × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
18	Alzheimer disease 💬	[1] PIK3CA_B_D 💬 Alzheimer disease × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Alzheimer disease × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 18. Alzheimer disease × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
19	Alzheimer disease 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Alzheimer disease × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Alzheimer disease × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 19. Alzheimer disease × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
20	Alzheimer disease 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Alzheimer disease × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Alzheimer disease × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 20. Alzheimer disease × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
21	Amoebiasis 💬	[1] PIK3CA_B_D 💬 Amoebiasis × Name Full Name PIK3CA_B_D	Alpelisib 💬 Amoebiasis × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 21. Amoebiasis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
22	Amoebiasis 💬	[1] PIK3CA_B_D 💬 Amoebiasis × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Amoebiasis × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 22. Amoebiasis × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
23	Amoebiasis 💬	[1] PIK3CA_B_D 💬 Amoebiasis × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Amoebiasis × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 23. Amoebiasis × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
24	Amoebiasis 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Amoebiasis × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Amoebiasis × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 24. Amoebiasis × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
25	Amoebiasis 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Amoebiasis × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Amoebiasis × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 25. Amoebiasis × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
26	AMPK signaling pathway 💬	[1] PIK3CA_B_D 💬 AMPK signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 AMPK signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 26. AMPK signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
27	AMPK signaling pathway 💬	[1] PIK3CA_B_D 💬 AMPK signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 AMPK signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 27. AMPK signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
28	AMPK signaling pathway 💬	[1] PIK3CA_B_D 💬 AMPK signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 AMPK signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 28. AMPK signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
29	AMPK signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 AMPK signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 AMPK signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 29. AMPK signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
30	AMPK signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 AMPK signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 AMPK signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 30. AMPK signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
31	Apoptosis 💬	[1] PIK3CA_B_D 💬 Apoptosis × Name Full Name PIK3CA_B_D	Alpelisib 💬 Apoptosis × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 31. Apoptosis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
32	Apoptosis 💬	[1] PIK3CA_B_D 💬 Apoptosis × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Apoptosis × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 32. Apoptosis × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
33	Apoptosis 💬	[1] PIK3CA_B_D 💬 Apoptosis × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Apoptosis × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 33. Apoptosis × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
34	Apoptosis 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Apoptosis × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Apoptosis × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 34. Apoptosis × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
35	Apoptosis 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Apoptosis × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Apoptosis × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 35. Apoptosis × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
36	Autophagy - animal 💬	[1] PIK3CA_B_D 💬 Autophagy - animal × Name Full Name PIK3CA_B_D	Alpelisib 💬 Autophagy - animal × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 36. Autophagy - animal × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
37	Autophagy - animal 💬	[1] PIK3CA_B_D 💬 Autophagy - animal × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Autophagy - animal × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 37. Autophagy - animal × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
38	Autophagy - animal 💬	[1] PIK3CA_B_D 💬 Autophagy - animal × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Autophagy - animal × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 38. Autophagy - animal × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
39	Autophagy - animal 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Autophagy - animal × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Autophagy - animal × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 39. Autophagy - animal × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
40	Autophagy - animal 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Autophagy - animal × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Autophagy - animal × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 40. Autophagy - animal × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
41	Axon guidance 💬	[1] PIK3CA_B_D 💬 Axon guidance × Name Full Name PIK3CA_B_D	Alpelisib 💬 Axon guidance × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 41. Axon guidance × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
42	Axon guidance 💬	[1] PIK3CA_B_D 💬 Axon guidance × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Axon guidance × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 42. Axon guidance × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
43	Axon guidance 💬	[1] PIK3CA_B_D 💬 Axon guidance × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Axon guidance × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 43. Axon guidance × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
44	Axon guidance 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Axon guidance × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Axon guidance × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 44. Axon guidance × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
45	Axon guidance 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Axon guidance × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Axon guidance × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 45. Axon guidance × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
46	B cell receptor signaling pathway 💬	[1] PIK3CA_B_D 💬 B cell receptor signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 B cell receptor signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 46. B cell receptor signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
47	B cell receptor signaling pathway 💬	[1] PIK3CA_B_D 💬 B cell receptor signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 B cell receptor signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 47. B cell receptor signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
48	B cell receptor signaling pathway 💬	[1] PIK3CA_B_D 💬 B cell receptor signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 B cell receptor signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 48. B cell receptor signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
49	B cell receptor signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 B cell receptor signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 B cell receptor signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 49. B cell receptor signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
50	B cell receptor signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 B cell receptor signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 B cell receptor signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 50. B cell receptor signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
51	Bacterial invasion of epithelial cells 💬	[1] PIK3CA_B_D 💬 Bacterial invasion of epithelial cells × Name Full Name PIK3CA_B_D	Alpelisib 💬 Bacterial invasion of epithelial cells × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 51. Bacterial invasion of epithelial cells × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
52	Bacterial invasion of epithelial cells 💬	[1] PIK3CA_B_D 💬 Bacterial invasion of epithelial cells × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Bacterial invasion of epithelial cells × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 52. Bacterial invasion of epithelial cells × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
53	Bacterial invasion of epithelial cells 💬	[1] PIK3CA_B_D 💬 Bacterial invasion of epithelial cells × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Bacterial invasion of epithelial cells × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 53. Bacterial invasion of epithelial cells × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
54	Bacterial invasion of epithelial cells 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Bacterial invasion of epithelial cells × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Bacterial invasion of epithelial cells × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 54. Bacterial invasion of epithelial cells × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
55	Bacterial invasion of epithelial cells 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Bacterial invasion of epithelial cells × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Bacterial invasion of epithelial cells × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 55. Bacterial invasion of epithelial cells × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
56	Breast cancer 💬	[1] PIK3CA_B_D 💬 Breast cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Breast cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 56. Breast cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
57	Breast cancer 💬	[1] PIK3CA_B_D 💬 Breast cancer × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Breast cancer × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 57. Breast cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
58	Breast cancer 💬	[1] PIK3CA_B_D 💬 Breast cancer × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Breast cancer × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 58. Breast cancer × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
59	Breast cancer 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Breast cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Breast cancer × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 59. Breast cancer × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
60	Breast cancer 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Breast cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Breast cancer × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 60. Breast cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
61	C-type lectin receptor signaling pathway 💬	[1] PIK3CA_B_D 💬 C-type lectin receptor signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 C-type lectin receptor signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 61. C-type lectin receptor signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
62	C-type lectin receptor signaling pathway 💬	[1] PIK3CA_B_D 💬 C-type lectin receptor signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 C-type lectin receptor signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 62. C-type lectin receptor signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
63	C-type lectin receptor signaling pathway 💬	[1] PIK3CA_B_D 💬 C-type lectin receptor signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 C-type lectin receptor signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 63. C-type lectin receptor signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
64	C-type lectin receptor signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 C-type lectin receptor signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 C-type lectin receptor signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 64. C-type lectin receptor signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
65	C-type lectin receptor signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 C-type lectin receptor signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 C-type lectin receptor signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 65. C-type lectin receptor signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
66	cAMP signaling pathway 💬	[1] PIK3CA_B_D 💬 cAMP signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 cAMP signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 66. cAMP signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
67	cAMP signaling pathway 💬	[1] PIK3CA_B_D 💬 cAMP signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 cAMP signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 67. cAMP signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
68	cAMP signaling pathway 💬	[1] PIK3CA_B_D 💬 cAMP signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 cAMP signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 68. cAMP signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
69	cAMP signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 cAMP signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 cAMP signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 69. cAMP signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
70	cAMP signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 cAMP signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 cAMP signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 70. cAMP signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
71	Carbohydrate digestion and absorption 💬	[1] PIK3CA_B_D 💬 Carbohydrate digestion and absorption × Name Full Name PIK3CA_B_D	Alpelisib 💬 Carbohydrate digestion and absorption × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 71. Carbohydrate digestion and absorption × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
72	Carbohydrate digestion and absorption 💬	[1] PIK3CA_B_D 💬 Carbohydrate digestion and absorption × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Carbohydrate digestion and absorption × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 72. Carbohydrate digestion and absorption × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
73	Carbohydrate digestion and absorption 💬	[1] PIK3CA_B_D 💬 Carbohydrate digestion and absorption × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Carbohydrate digestion and absorption × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 73. Carbohydrate digestion and absorption × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
74	Carbohydrate digestion and absorption 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Carbohydrate digestion and absorption × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Carbohydrate digestion and absorption × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 74. Carbohydrate digestion and absorption × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
75	Carbohydrate digestion and absorption 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Carbohydrate digestion and absorption × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Carbohydrate digestion and absorption × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 75. Carbohydrate digestion and absorption × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
76	Cellular senescence 💬	[1] PIK3CA_B_D 💬 Cellular senescence × Name Full Name PIK3CA_B_D	Alpelisib 💬 Cellular senescence × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 76. Cellular senescence × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
77	Cellular senescence 💬	[1] PIK3CA_B_D 💬 Cellular senescence × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Cellular senescence × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 77. Cellular senescence × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
78	Cellular senescence 💬	[1] PIK3CA_B_D 💬 Cellular senescence × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Cellular senescence × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 78. Cellular senescence × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
79	Cellular senescence 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Cellular senescence × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Cellular senescence × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 79. Cellular senescence × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
80	Cellular senescence 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Cellular senescence × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Cellular senescence × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 80. Cellular senescence × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
81	Central carbon metabolism in cancer 💬	[1] PIK3CA_B_D 💬 Central carbon metabolism in cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Central carbon metabolism in cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 81. Central carbon metabolism in cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
82	Central carbon metabolism in cancer 💬	[1] PIK3CA_B_D 💬 Central carbon metabolism in cancer × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Central carbon metabolism in cancer × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 82. Central carbon metabolism in cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
83	Central carbon metabolism in cancer 💬	[1] PIK3CA_B_D 💬 Central carbon metabolism in cancer × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Central carbon metabolism in cancer × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 83. Central carbon metabolism in cancer × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
84	Central carbon metabolism in cancer 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Central carbon metabolism in cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Central carbon metabolism in cancer × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 84. Central carbon metabolism in cancer × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
85	Central carbon metabolism in cancer 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Central carbon metabolism in cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Central carbon metabolism in cancer × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 85. Central carbon metabolism in cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
86	Chagas disease 💬	[1] PIK3CA_B_D 💬 Chagas disease × Name Full Name PIK3CA_B_D	Alpelisib 💬 Chagas disease × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 86. Chagas disease × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
87	Chagas disease 💬	[1] PIK3CA_B_D 💬 Chagas disease × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Chagas disease × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 87. Chagas disease × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
88	Chagas disease 💬	[1] PIK3CA_B_D 💬 Chagas disease × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Chagas disease × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 88. Chagas disease × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
89	Chagas disease 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Chagas disease × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Chagas disease × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 89. Chagas disease × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
90	Chagas disease 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Chagas disease × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Chagas disease × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 90. Chagas disease × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
91	Chemical carcinogenesis - reactive oxygen species 💬	[1] PIK3CA_B_D 💬 Chemical carcinogenesis - reactive oxygen species × Name Full Name PIK3CA_B_D	Alpelisib 💬 Chemical carcinogenesis - reactive oxygen species × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 91. Chemical carcinogenesis - reactive oxygen species × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
92	Chemical carcinogenesis - reactive oxygen species 💬	[1] PIK3CA_B_D 💬 Chemical carcinogenesis - reactive oxygen species × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Chemical carcinogenesis - reactive oxygen species × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 92. Chemical carcinogenesis - reactive oxygen species × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
93	Chemical carcinogenesis - reactive oxygen species 💬	[1] PIK3CA_B_D 💬 Chemical carcinogenesis - reactive oxygen species × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Chemical carcinogenesis - reactive oxygen species × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 93. Chemical carcinogenesis - reactive oxygen species × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
94	Chemical carcinogenesis - reactive oxygen species 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Chemical carcinogenesis - reactive oxygen species × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Chemical carcinogenesis - reactive oxygen species × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 94. Chemical carcinogenesis - reactive oxygen species × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
95	Chemical carcinogenesis - reactive oxygen species 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Chemical carcinogenesis - reactive oxygen species × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Chemical carcinogenesis - reactive oxygen species × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 95. Chemical carcinogenesis - reactive oxygen species × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
96	Chemical carcinogenesis - receptor activation 💬	[1] PIK3CA_B_D 💬 Chemical carcinogenesis - receptor activation × Name Full Name PIK3CA_B_D	Alpelisib 💬 Chemical carcinogenesis - receptor activation × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 96. Chemical carcinogenesis - receptor activation × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
97	Chemical carcinogenesis - receptor activation 💬	[1] PIK3CA_B_D 💬 Chemical carcinogenesis - receptor activation × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Chemical carcinogenesis - receptor activation × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 97. Chemical carcinogenesis - receptor activation × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
98	Chemical carcinogenesis - receptor activation 💬	[1] PIK3CA_B_D 💬 Chemical carcinogenesis - receptor activation × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Chemical carcinogenesis - receptor activation × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 98. Chemical carcinogenesis - receptor activation × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
99	Chemical carcinogenesis - receptor activation 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Chemical carcinogenesis - receptor activation × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Chemical carcinogenesis - receptor activation × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 99. Chemical carcinogenesis - receptor activation × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
100	Chemical carcinogenesis - receptor activation 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Chemical carcinogenesis - receptor activation × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Chemical carcinogenesis - receptor activation × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 100. Chemical carcinogenesis - receptor activation × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
101	Chemokine signaling pathway 💬	[1] PIK3CA_B_D 💬 Chemokine signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Chemokine signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 101. Chemokine signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
102	Chemokine signaling pathway 💬	[1] PIK3CA_B_D 💬 Chemokine signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Chemokine signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 102. Chemokine signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
103	Chemokine signaling pathway 💬	[1] PIK3CA_B_D 💬 Chemokine signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Chemokine signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 103. Chemokine signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
104	Chemokine signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Chemokine signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Chemokine signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 104. Chemokine signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
105	Chemokine signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Chemokine signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Chemokine signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 105. Chemokine signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
106	Choline metabolism in cancer 💬	[1] PIK3CA_B_D 💬 Choline metabolism in cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Choline metabolism in cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 106. Choline metabolism in cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
107	Choline metabolism in cancer 💬	[1] PIK3CA_B_D 💬 Choline metabolism in cancer × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Choline metabolism in cancer × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 107. Choline metabolism in cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
108	Choline metabolism in cancer 💬	[1] PIK3CA_B_D 💬 Choline metabolism in cancer × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Choline metabolism in cancer × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 108. Choline metabolism in cancer × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
109	Choline metabolism in cancer 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Choline metabolism in cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Choline metabolism in cancer × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 109. Choline metabolism in cancer × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
110	Choline metabolism in cancer 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Choline metabolism in cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Choline metabolism in cancer × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 110. Choline metabolism in cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
111	Cholinergic synapse 💬	[1] PIK3CA_B_D 💬 Cholinergic synapse × Name Full Name PIK3CA_B_D	Alpelisib 💬 Cholinergic synapse × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 111. Cholinergic synapse × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
112	Cholinergic synapse 💬	[1] PIK3CA_B_D 💬 Cholinergic synapse × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Cholinergic synapse × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 112. Cholinergic synapse × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
113	Cholinergic synapse 💬	[1] PIK3CA_B_D 💬 Cholinergic synapse × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Cholinergic synapse × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 113. Cholinergic synapse × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
114	Cholinergic synapse 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Cholinergic synapse × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Cholinergic synapse × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 114. Cholinergic synapse × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
115	Cholinergic synapse 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Cholinergic synapse × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Cholinergic synapse × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 115. Cholinergic synapse × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
116	Chronic myeloid leukemia 💬	[1] PIK3CA_B_D 💬 Chronic myeloid leukemia × Name Full Name PIK3CA_B_D	Alpelisib 💬 Chronic myeloid leukemia × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 116. Chronic myeloid leukemia × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
117	Chronic myeloid leukemia 💬	[1] PIK3CA_B_D 💬 Chronic myeloid leukemia × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Chronic myeloid leukemia × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 117. Chronic myeloid leukemia × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
118	Chronic myeloid leukemia 💬	[1] PIK3CA_B_D 💬 Chronic myeloid leukemia × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Chronic myeloid leukemia × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 118. Chronic myeloid leukemia × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
119	Chronic myeloid leukemia 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Chronic myeloid leukemia × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Chronic myeloid leukemia × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 119. Chronic myeloid leukemia × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
120	Chronic myeloid leukemia 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Chronic myeloid leukemia × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Chronic myeloid leukemia × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 120. Chronic myeloid leukemia × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
121	Colorectal cancer 💬	[1] PIK3CA_B_D 💬 Colorectal cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Colorectal cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 121. Colorectal cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
122	Colorectal cancer 💬	[1] PIK3CA_B_D 💬 Colorectal cancer × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Colorectal cancer × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 122. Colorectal cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
123	Colorectal cancer 💬	[1] PIK3CA_B_D 💬 Colorectal cancer × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Colorectal cancer × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 123. Colorectal cancer × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
124	Colorectal cancer 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Colorectal cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Colorectal cancer × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 124. Colorectal cancer × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
125	Colorectal cancer 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Colorectal cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Colorectal cancer × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 125. Colorectal cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
126	Coronavirus disease - COVID-19 💬	[1] PIK3CA_B_D 💬 Coronavirus disease - COVID-19 × Name Full Name PIK3CA_B_D	Alpelisib 💬 Coronavirus disease - COVID-19 × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 126. Coronavirus disease - COVID-19 × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
127	Coronavirus disease - COVID-19 💬	[1] PIK3CA_B_D 💬 Coronavirus disease - COVID-19 × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Coronavirus disease - COVID-19 × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 127. Coronavirus disease - COVID-19 × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
128	Coronavirus disease - COVID-19 💬	[1] PIK3CA_B_D 💬 Coronavirus disease - COVID-19 × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Coronavirus disease - COVID-19 × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 128. Coronavirus disease - COVID-19 × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
129	Coronavirus disease - COVID-19 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Coronavirus disease - COVID-19 × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Coronavirus disease - COVID-19 × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 129. Coronavirus disease - COVID-19 × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
130	Coronavirus disease - COVID-19 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Coronavirus disease - COVID-19 × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Coronavirus disease - COVID-19 × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 130. Coronavirus disease - COVID-19 × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
131	Diabetic cardiomyopathy 💬	[1] PIK3CA_B_D 💬 Diabetic cardiomyopathy × Name Full Name PIK3CA_B_D	Alpelisib 💬 Diabetic cardiomyopathy × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 131. Diabetic cardiomyopathy × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
132	Diabetic cardiomyopathy 💬	[1] PIK3CA_B_D 💬 Diabetic cardiomyopathy × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Diabetic cardiomyopathy × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 132. Diabetic cardiomyopathy × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
133	Diabetic cardiomyopathy 💬	[1] PIK3CA_B_D 💬 Diabetic cardiomyopathy × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Diabetic cardiomyopathy × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 133. Diabetic cardiomyopathy × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
134	Diabetic cardiomyopathy 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Diabetic cardiomyopathy × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Diabetic cardiomyopathy × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 134. Diabetic cardiomyopathy × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
135	Diabetic cardiomyopathy 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Diabetic cardiomyopathy × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Diabetic cardiomyopathy × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 135. Diabetic cardiomyopathy × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
136	Endometrial cancer 💬	[1] PIK3CA_B_D 💬 Endometrial cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Endometrial cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 136. Endometrial cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
137	Endometrial cancer 💬	[1] PIK3CA_B_D 💬 Endometrial cancer × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Endometrial cancer × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 137. Endometrial cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
138	Endometrial cancer 💬	[1] PIK3CA_B_D 💬 Endometrial cancer × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Endometrial cancer × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 138. Endometrial cancer × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
139	Endometrial cancer 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Endometrial cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Endometrial cancer × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 139. Endometrial cancer × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
140	Endometrial cancer 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Endometrial cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Endometrial cancer × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 140. Endometrial cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
141	Epstein-Barr virus infection 💬	[1] PIK3CA_B_D 💬 Epstein-Barr virus infection × Name Full Name PIK3CA_B_D	Alpelisib 💬 Epstein-Barr virus infection × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 141. Epstein-Barr virus infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
142	Epstein-Barr virus infection 💬	[1] PIK3CA_B_D 💬 Epstein-Barr virus infection × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Epstein-Barr virus infection × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 142. Epstein-Barr virus infection × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
143	Epstein-Barr virus infection 💬	[1] PIK3CA_B_D 💬 Epstein-Barr virus infection × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Epstein-Barr virus infection × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 143. Epstein-Barr virus infection × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
144	Epstein-Barr virus infection 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Epstein-Barr virus infection × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Epstein-Barr virus infection × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 144. Epstein-Barr virus infection × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
145	Epstein-Barr virus infection 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Epstein-Barr virus infection × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Epstein-Barr virus infection × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 145. Epstein-Barr virus infection × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
146	ErbB signaling pathway 💬	[1] PIK3CA_B_D 💬 ErbB signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 ErbB signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 146. ErbB signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
147	ErbB signaling pathway 💬	[1] PIK3CA_B_D 💬 ErbB signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 ErbB signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 147. ErbB signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
148	ErbB signaling pathway 💬	[1] PIK3CA_B_D 💬 ErbB signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 ErbB signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 148. ErbB signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
149	ErbB signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 ErbB signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 ErbB signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 149. ErbB signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
150	ErbB signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 ErbB signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 ErbB signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 150. ErbB signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
151	Estrogen signaling pathway 💬	[1] PIK3CA_B_D 💬 Estrogen signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Estrogen signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 151. Estrogen signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
152	Estrogen signaling pathway 💬	[1] PIK3CA_B_D 💬 Estrogen signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Estrogen signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 152. Estrogen signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
153	Estrogen signaling pathway 💬	[1] PIK3CA_B_D 💬 Estrogen signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Estrogen signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 153. Estrogen signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
154	Estrogen signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Estrogen signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Estrogen signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 154. Estrogen signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
155	Estrogen signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Estrogen signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Estrogen signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 155. Estrogen signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
156	Fc epsilon RI signaling pathway 💬	[1] PIK3CA_B_D 💬 Fc epsilon RI signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Fc epsilon RI signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 156. Fc epsilon RI signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
157	Fc epsilon RI signaling pathway 💬	[1] PIK3CA_B_D 💬 Fc epsilon RI signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Fc epsilon RI signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 157. Fc epsilon RI signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
158	Fc epsilon RI signaling pathway 💬	[1] PIK3CA_B_D 💬 Fc epsilon RI signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Fc epsilon RI signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 158. Fc epsilon RI signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
159	Fc epsilon RI signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Fc epsilon RI signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Fc epsilon RI signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 159. Fc epsilon RI signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
160	Fc epsilon RI signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Fc epsilon RI signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Fc epsilon RI signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 160. Fc epsilon RI signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
161	Fc gamma R-mediated phagocytosis 💬	[1] PIK3CA_B_D 💬 Fc gamma R-mediated phagocytosis × Name Full Name PIK3CA_B_D	Alpelisib 💬 Fc gamma R-mediated phagocytosis × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 161. Fc gamma R-mediated phagocytosis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
162	Fc gamma R-mediated phagocytosis 💬	[1] PIK3CA_B_D 💬 Fc gamma R-mediated phagocytosis × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Fc gamma R-mediated phagocytosis × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 162. Fc gamma R-mediated phagocytosis × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
163	Fc gamma R-mediated phagocytosis 💬	[1] PIK3CA_B_D 💬 Fc gamma R-mediated phagocytosis × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Fc gamma R-mediated phagocytosis × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 163. Fc gamma R-mediated phagocytosis × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
164	Fc gamma R-mediated phagocytosis 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Fc gamma R-mediated phagocytosis × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Fc gamma R-mediated phagocytosis × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 164. Fc gamma R-mediated phagocytosis × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
165	Fc gamma R-mediated phagocytosis 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Fc gamma R-mediated phagocytosis × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Fc gamma R-mediated phagocytosis × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 165. Fc gamma R-mediated phagocytosis × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
166	Fluid shear stress and atherosclerosis 💬	[1] PIK3CA_B_D 💬 Fluid shear stress and atherosclerosis × Name Full Name PIK3CA_B_D	Alpelisib 💬 Fluid shear stress and atherosclerosis × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 166. Fluid shear stress and atherosclerosis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
167	Fluid shear stress and atherosclerosis 💬	[1] PIK3CA_B_D 💬 Fluid shear stress and atherosclerosis × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Fluid shear stress and atherosclerosis × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 167. Fluid shear stress and atherosclerosis × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
168	Fluid shear stress and atherosclerosis 💬	[1] PIK3CA_B_D 💬 Fluid shear stress and atherosclerosis × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Fluid shear stress and atherosclerosis × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 168. Fluid shear stress and atherosclerosis × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
169	Fluid shear stress and atherosclerosis 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Fluid shear stress and atherosclerosis × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Fluid shear stress and atherosclerosis × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 169. Fluid shear stress and atherosclerosis × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
170	Fluid shear stress and atherosclerosis 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Fluid shear stress and atherosclerosis × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Fluid shear stress and atherosclerosis × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 170. Fluid shear stress and atherosclerosis × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
171	Focal adhesion 💬	[1] PIK3CA_B_D 💬 Focal adhesion × Name Full Name PIK3CA_B_D	Alpelisib 💬 Focal adhesion × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 171. Focal adhesion × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
172	Focal adhesion 💬	[1] PIK3CA_B_D 💬 Focal adhesion × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Focal adhesion × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 172. Focal adhesion × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
173	Focal adhesion 💬	[1] PIK3CA_B_D 💬 Focal adhesion × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Focal adhesion × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 173. Focal adhesion × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
174	Focal adhesion 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Focal adhesion × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Focal adhesion × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 174. Focal adhesion × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
175	Focal adhesion 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Focal adhesion × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Focal adhesion × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 175. Focal adhesion × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
176	FoxO signaling pathway 💬	[1] PIK3CA_B_D 💬 FoxO signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 FoxO signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 176. FoxO signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
177	FoxO signaling pathway 💬	[1] PIK3CA_B_D 💬 FoxO signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 FoxO signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 177. FoxO signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
178	FoxO signaling pathway 💬	[1] PIK3CA_B_D 💬 FoxO signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 FoxO signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 178. FoxO signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
179	FoxO signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 FoxO signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 FoxO signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 179. FoxO signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
180	FoxO signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 FoxO signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 FoxO signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 180. FoxO signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
181	Gastric cancer 💬	[1] PIK3CA_B_D 💬 Gastric cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Gastric cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 181. Gastric cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
182	Gastric cancer 💬	[1] PIK3CA_B_D 💬 Gastric cancer × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Gastric cancer × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 182. Gastric cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
183	Gastric cancer 💬	[1] PIK3CA_B_D 💬 Gastric cancer × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Gastric cancer × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 183. Gastric cancer × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
184	Gastric cancer 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Gastric cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Gastric cancer × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 184. Gastric cancer × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
185	Gastric cancer 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Gastric cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Gastric cancer × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 185. Gastric cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
186	Glioma 💬	[1] PIK3CA_B_D 💬 Glioma × Name Full Name PIK3CA_B_D	Alpelisib 💬 Glioma × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 186. Glioma × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
187	Glioma 💬	[1] PIK3CA_B_D 💬 Glioma × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Glioma × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 187. Glioma × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
188	Glioma 💬	[1] PIK3CA_B_D 💬 Glioma × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Glioma × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 188. Glioma × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
189	Glioma 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Glioma × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Glioma × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 189. Glioma × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
190	Glioma 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Glioma × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Glioma × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 190. Glioma × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
191	GnRH secretion 💬	[1] PIK3CA_B_D 💬 GnRH secretion × Name Full Name PIK3CA_B_D	Alpelisib 💬 GnRH secretion × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 191. GnRH secretion × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
192	GnRH secretion 💬	[1] PIK3CA_B_D 💬 GnRH secretion × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 GnRH secretion × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 192. GnRH secretion × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
193	GnRH secretion 💬	[1] PIK3CA_B_D 💬 GnRH secretion × Name Full Name PIK3CA_B_D	Parsaclisib 💬 GnRH secretion × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 193. GnRH secretion × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
194	GnRH secretion 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 GnRH secretion × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 GnRH secretion × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 194. GnRH secretion × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
195	GnRH secretion 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 GnRH secretion × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 GnRH secretion × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 195. GnRH secretion × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
196	Growth hormone synthesis, secretion and action 💬	[1] PIK3CA_B_D 💬 Growth hormone synthesis, secretion and action × Name Full Name PIK3CA_B_D	Alpelisib 💬 Growth hormone synthesis, secretion and action × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 196. Growth hormone synthesis, secretion and action × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
197	Growth hormone synthesis, secretion and action 💬	[1] PIK3CA_B_D 💬 Growth hormone synthesis, secretion and action × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Growth hormone synthesis, secretion and action × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 197. Growth hormone synthesis, secretion and action × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
198	Growth hormone synthesis, secretion and action 💬	[1] PIK3CA_B_D 💬 Growth hormone synthesis, secretion and action × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Growth hormone synthesis, secretion and action × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 198. Growth hormone synthesis, secretion and action × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
199	Growth hormone synthesis, secretion and action 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Growth hormone synthesis, secretion and action × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Growth hormone synthesis, secretion and action × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 199. Growth hormone synthesis, secretion and action × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
200	Growth hormone synthesis, secretion and action 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Growth hormone synthesis, secretion and action × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Growth hormone synthesis, secretion and action × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 200. Growth hormone synthesis, secretion and action × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
201	Hepatitis B 💬	[1] PIK3CA_B_D 💬 Hepatitis B × Name Full Name PIK3CA_B_D	Alpelisib 💬 Hepatitis B × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 201. Hepatitis B × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
202	Hepatitis B 💬	[1] PIK3CA_B_D 💬 Hepatitis B × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Hepatitis B × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 202. Hepatitis B × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
203	Hepatitis B 💬	[1] PIK3CA_B_D 💬 Hepatitis B × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Hepatitis B × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 203. Hepatitis B × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
204	Hepatitis B 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Hepatitis B × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Hepatitis B × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 204. Hepatitis B × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
205	Hepatitis B 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Hepatitis B × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Hepatitis B × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 205. Hepatitis B × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
206	Hepatitis C 💬	[1] PIK3CA_B_D 💬 Hepatitis C × Name Full Name PIK3CA_B_D	Alpelisib 💬 Hepatitis C × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 206. Hepatitis C × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
207	Hepatitis C 💬	[1] PIK3CA_B_D 💬 Hepatitis C × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Hepatitis C × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 207. Hepatitis C × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
208	Hepatitis C 💬	[1] PIK3CA_B_D 💬 Hepatitis C × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Hepatitis C × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 208. Hepatitis C × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
209	Hepatitis C 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Hepatitis C × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Hepatitis C × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 209. Hepatitis C × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
210	Hepatitis C 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Hepatitis C × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Hepatitis C × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 210. Hepatitis C × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
211	Hepatocellular carcinoma 💬	[1] PIK3CA_B_D 💬 Hepatocellular carcinoma × Name Full Name PIK3CA_B_D	Alpelisib 💬 Hepatocellular carcinoma × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 211. Hepatocellular carcinoma × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
212	Hepatocellular carcinoma 💬	[1] PIK3CA_B_D 💬 Hepatocellular carcinoma × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Hepatocellular carcinoma × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 212. Hepatocellular carcinoma × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
213	Hepatocellular carcinoma 💬	[1] PIK3CA_B_D 💬 Hepatocellular carcinoma × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Hepatocellular carcinoma × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 213. Hepatocellular carcinoma × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
214	Hepatocellular carcinoma 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Hepatocellular carcinoma × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Hepatocellular carcinoma × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 214. Hepatocellular carcinoma × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
215	Hepatocellular carcinoma 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Hepatocellular carcinoma × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Hepatocellular carcinoma × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 215. Hepatocellular carcinoma × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
216	Herpes simplex virus 1 infection 💬	[1] PIK3CA_B_D 💬 Herpes simplex virus 1 infection × Name Full Name PIK3CA_B_D	Alpelisib 💬 Herpes simplex virus 1 infection × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 216. Herpes simplex virus 1 infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
217	Herpes simplex virus 1 infection 💬	[1] PIK3CA_B_D 💬 Herpes simplex virus 1 infection × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Herpes simplex virus 1 infection × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 217. Herpes simplex virus 1 infection × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
218	Herpes simplex virus 1 infection 💬	[1] PIK3CA_B_D 💬 Herpes simplex virus 1 infection × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Herpes simplex virus 1 infection × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 218. Herpes simplex virus 1 infection × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
219	Herpes simplex virus 1 infection 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Herpes simplex virus 1 infection × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Herpes simplex virus 1 infection × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 219. Herpes simplex virus 1 infection × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
220	Herpes simplex virus 1 infection 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Herpes simplex virus 1 infection × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Herpes simplex virus 1 infection × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 220. Herpes simplex virus 1 infection × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
221	HIF-1 signaling pathway 💬	[1] PIK3CA_B_D 💬 HIF-1 signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 HIF-1 signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 221. HIF-1 signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
222	HIF-1 signaling pathway 💬	[1] PIK3CA_B_D 💬 HIF-1 signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 HIF-1 signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 222. HIF-1 signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
223	HIF-1 signaling pathway 💬	[1] PIK3CA_B_D 💬 HIF-1 signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 HIF-1 signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 223. HIF-1 signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
224	HIF-1 signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 HIF-1 signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 HIF-1 signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 224. HIF-1 signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
225	HIF-1 signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 HIF-1 signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 HIF-1 signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 225. HIF-1 signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
226	Hormone signaling 💬	[1] PIK3CA_B_D 💬 Hormone signaling × Name Full Name PIK3CA_B_D	Alpelisib 💬 Hormone signaling × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 226. Hormone signaling × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
227	Hormone signaling 💬	[1] PIK3CA_B_D 💬 Hormone signaling × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Hormone signaling × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 227. Hormone signaling × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
228	Hormone signaling 💬	[1] PIK3CA_B_D 💬 Hormone signaling × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Hormone signaling × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 228. Hormone signaling × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
229	Hormone signaling 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Hormone signaling × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Hormone signaling × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 229. Hormone signaling × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
230	Hormone signaling 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Hormone signaling × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Hormone signaling × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 230. Hormone signaling × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
231	Human cytomegalovirus infection 💬	[1] PIK3CA_B_D 💬 Human cytomegalovirus infection × Name Full Name PIK3CA_B_D	Alpelisib 💬 Human cytomegalovirus infection × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 231. Human cytomegalovirus infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
232	Human cytomegalovirus infection 💬	[1] PIK3CA_B_D 💬 Human cytomegalovirus infection × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Human cytomegalovirus infection × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 232. Human cytomegalovirus infection × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
233	Human cytomegalovirus infection 💬	[1] PIK3CA_B_D 💬 Human cytomegalovirus infection × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Human cytomegalovirus infection × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 233. Human cytomegalovirus infection × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
234	Human cytomegalovirus infection 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Human cytomegalovirus infection × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Human cytomegalovirus infection × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 234. Human cytomegalovirus infection × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
235	Human cytomegalovirus infection 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Human cytomegalovirus infection × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Human cytomegalovirus infection × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 235. Human cytomegalovirus infection × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
236	Human immunodeficiency virus 1 infection 💬	[1] PIK3CA_B_D 💬 Human immunodeficiency virus 1 infection × Name Full Name PIK3CA_B_D	Alpelisib 💬 Human immunodeficiency virus 1 infection × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 236. Human immunodeficiency virus 1 infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
237	Human immunodeficiency virus 1 infection 💬	[1] PIK3CA_B_D 💬 Human immunodeficiency virus 1 infection × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Human immunodeficiency virus 1 infection × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 237. Human immunodeficiency virus 1 infection × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
238	Human immunodeficiency virus 1 infection 💬	[1] PIK3CA_B_D 💬 Human immunodeficiency virus 1 infection × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Human immunodeficiency virus 1 infection × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 238. Human immunodeficiency virus 1 infection × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
239	Human immunodeficiency virus 1 infection 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Human immunodeficiency virus 1 infection × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Human immunodeficiency virus 1 infection × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 239. Human immunodeficiency virus 1 infection × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
240	Human immunodeficiency virus 1 infection 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Human immunodeficiency virus 1 infection × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Human immunodeficiency virus 1 infection × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 240. Human immunodeficiency virus 1 infection × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
241	Human papillomavirus infection 💬	[1] PIK3CA_B_D 💬 Human papillomavirus infection × Name Full Name PIK3CA_B_D	Alpelisib 💬 Human papillomavirus infection × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 241. Human papillomavirus infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
242	Human papillomavirus infection 💬	[1] PIK3CA_B_D 💬 Human papillomavirus infection × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Human papillomavirus infection × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 242. Human papillomavirus infection × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
243	Human papillomavirus infection 💬	[1] PIK3CA_B_D 💬 Human papillomavirus infection × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Human papillomavirus infection × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 243. Human papillomavirus infection × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
244	Human papillomavirus infection 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Human papillomavirus infection × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Human papillomavirus infection × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 244. Human papillomavirus infection × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
245	Human papillomavirus infection 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Human papillomavirus infection × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Human papillomavirus infection × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 245. Human papillomavirus infection × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
246	Human T-cell leukemia virus 1 infection 💬	[1] PIK3CA_B_D 💬 Human T-cell leukemia virus 1 infection × Name Full Name PIK3CA_B_D	Alpelisib 💬 Human T-cell leukemia virus 1 infection × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 246. Human T-cell leukemia virus 1 infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
247	Human T-cell leukemia virus 1 infection 💬	[1] PIK3CA_B_D 💬 Human T-cell leukemia virus 1 infection × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Human T-cell leukemia virus 1 infection × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 247. Human T-cell leukemia virus 1 infection × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
248	Human T-cell leukemia virus 1 infection 💬	[1] PIK3CA_B_D 💬 Human T-cell leukemia virus 1 infection × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Human T-cell leukemia virus 1 infection × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 248. Human T-cell leukemia virus 1 infection × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
249	Human T-cell leukemia virus 1 infection 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Human T-cell leukemia virus 1 infection × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Human T-cell leukemia virus 1 infection × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 249. Human T-cell leukemia virus 1 infection × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
250	Human T-cell leukemia virus 1 infection 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Human T-cell leukemia virus 1 infection × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Human T-cell leukemia virus 1 infection × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 250. Human T-cell leukemia virus 1 infection × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
251	Inflammatory mediator regulation of TRP channels 💬	[1] PIK3CA_B_D 💬 Inflammatory mediator regulation of TRP channels × Name Full Name PIK3CA_B_D	Alpelisib 💬 Inflammatory mediator regulation of TRP channels × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 251. Inflammatory mediator regulation of TRP channels × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
252	Inflammatory mediator regulation of TRP channels 💬	[1] PIK3CA_B_D 💬 Inflammatory mediator regulation of TRP channels × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Inflammatory mediator regulation of TRP channels × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 252. Inflammatory mediator regulation of TRP channels × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
253	Inflammatory mediator regulation of TRP channels 💬	[1] PIK3CA_B_D 💬 Inflammatory mediator regulation of TRP channels × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Inflammatory mediator regulation of TRP channels × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 253. Inflammatory mediator regulation of TRP channels × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
254	Inflammatory mediator regulation of TRP channels 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Inflammatory mediator regulation of TRP channels × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Inflammatory mediator regulation of TRP channels × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 254. Inflammatory mediator regulation of TRP channels × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
255	Inflammatory mediator regulation of TRP channels 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Inflammatory mediator regulation of TRP channels × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Inflammatory mediator regulation of TRP channels × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 255. Inflammatory mediator regulation of TRP channels × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
256	Influenza A 💬	[1] PIK3CA_B_D 💬 Influenza A × Name Full Name PIK3CA_B_D	Alpelisib 💬 Influenza A × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 256. Influenza A × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
257	Influenza A 💬	[1] PIK3CA_B_D 💬 Influenza A × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Influenza A × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 257. Influenza A × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
258	Influenza A 💬	[1] PIK3CA_B_D 💬 Influenza A × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Influenza A × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 258. Influenza A × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
259	Influenza A 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Influenza A × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Influenza A × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 259. Influenza A × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
260	Influenza A 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Influenza A × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Influenza A × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 260. Influenza A × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
261	Inositol phosphate metabolism 💬	[1] PIK3CA_B_D 💬 Inositol phosphate metabolism × Name Full Name PIK3CA_B_D	Alpelisib 💬 Inositol phosphate metabolism × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 261. Inositol phosphate metabolism × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
262	Inositol phosphate metabolism 💬	[1] PIK3CA_B_D 💬 Inositol phosphate metabolism × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Inositol phosphate metabolism × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 262. Inositol phosphate metabolism × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
263	Inositol phosphate metabolism 💬	[1] PIK3CA_B_D 💬 Inositol phosphate metabolism × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Inositol phosphate metabolism × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 263. Inositol phosphate metabolism × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
264	Inositol phosphate metabolism 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Inositol phosphate metabolism × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Inositol phosphate metabolism × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 264. Inositol phosphate metabolism × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
265	Inositol phosphate metabolism 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Inositol phosphate metabolism × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Inositol phosphate metabolism × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 265. Inositol phosphate metabolism × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
266	Insulin resistance 💬	[1] PIK3CA_B_D 💬 Insulin resistance × Name Full Name PIK3CA_B_D	Alpelisib 💬 Insulin resistance × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 266. Insulin resistance × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
267	Insulin resistance 💬	[1] PIK3CA_B_D 💬 Insulin resistance × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Insulin resistance × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 267. Insulin resistance × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
268	Insulin resistance 💬	[1] PIK3CA_B_D 💬 Insulin resistance × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Insulin resistance × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 268. Insulin resistance × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
269	Insulin resistance 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Insulin resistance × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Insulin resistance × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 269. Insulin resistance × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
270	Insulin resistance 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Insulin resistance × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Insulin resistance × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 270. Insulin resistance × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
271	Insulin signaling pathway 💬	[1] PIK3CA_B_D 💬 Insulin signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Insulin signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 271. Insulin signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
272	Insulin signaling pathway 💬	[1] PIK3CA_B_D 💬 Insulin signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Insulin signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 272. Insulin signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
273	Insulin signaling pathway 💬	[1] PIK3CA_B_D 💬 Insulin signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Insulin signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 273. Insulin signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
274	Insulin signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Insulin signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Insulin signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 274. Insulin signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
275	Insulin signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Insulin signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Insulin signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 275. Insulin signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
276	JAK-STAT signaling pathway 💬	[1] PIK3CA_B_D 💬 JAK-STAT signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 JAK-STAT signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 276. JAK-STAT signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
277	JAK-STAT signaling pathway 💬	[1] PIK3CA_B_D 💬 JAK-STAT signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 JAK-STAT signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 277. JAK-STAT signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
278	JAK-STAT signaling pathway 💬	[1] PIK3CA_B_D 💬 JAK-STAT signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 JAK-STAT signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 278. JAK-STAT signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
279	JAK-STAT signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 JAK-STAT signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 JAK-STAT signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 279. JAK-STAT signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
280	JAK-STAT signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 JAK-STAT signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 JAK-STAT signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 280. JAK-STAT signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
281	Kaposi sarcoma-associated herpesvirus infection 💬	[1] PIK3CA_B_D 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name PIK3CA_B_D	Alpelisib 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 281. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
282	Kaposi sarcoma-associated herpesvirus infection 💬	[1] PIK3CA_B_D 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 282. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
283	Kaposi sarcoma-associated herpesvirus infection 💬	[1] PIK3CA_B_D 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 283. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
284	Kaposi sarcoma-associated herpesvirus infection 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 284. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
285	Kaposi sarcoma-associated herpesvirus infection 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Kaposi sarcoma-associated herpesvirus infection × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Kaposi sarcoma-associated herpesvirus infection × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 285. Kaposi sarcoma-associated herpesvirus infection × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
286	Leukocyte transendothelial migration 💬	[1] PIK3CA_B_D 💬 Leukocyte transendothelial migration × Name Full Name PIK3CA_B_D	Alpelisib 💬 Leukocyte transendothelial migration × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 286. Leukocyte transendothelial migration × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
287	Leukocyte transendothelial migration 💬	[1] PIK3CA_B_D 💬 Leukocyte transendothelial migration × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Leukocyte transendothelial migration × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 287. Leukocyte transendothelial migration × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
288	Leukocyte transendothelial migration 💬	[1] PIK3CA_B_D 💬 Leukocyte transendothelial migration × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Leukocyte transendothelial migration × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 288. Leukocyte transendothelial migration × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
289	Leukocyte transendothelial migration 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Leukocyte transendothelial migration × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Leukocyte transendothelial migration × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 289. Leukocyte transendothelial migration × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
290	Leukocyte transendothelial migration 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Leukocyte transendothelial migration × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Leukocyte transendothelial migration × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 290. Leukocyte transendothelial migration × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
291	Lipid and atherosclerosis 💬	[1] PIK3CA_B_D 💬 Lipid and atherosclerosis × Name Full Name PIK3CA_B_D	Alpelisib 💬 Lipid and atherosclerosis × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 291. Lipid and atherosclerosis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
292	Lipid and atherosclerosis 💬	[1] PIK3CA_B_D 💬 Lipid and atherosclerosis × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Lipid and atherosclerosis × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 292. Lipid and atherosclerosis × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
293	Lipid and atherosclerosis 💬	[1] PIK3CA_B_D 💬 Lipid and atherosclerosis × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Lipid and atherosclerosis × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 293. Lipid and atherosclerosis × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
294	Lipid and atherosclerosis 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Lipid and atherosclerosis × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Lipid and atherosclerosis × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 294. Lipid and atherosclerosis × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
295	Lipid and atherosclerosis 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Lipid and atherosclerosis × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Lipid and atherosclerosis × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 295. Lipid and atherosclerosis × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
296	Longevity regulating pathway 💬	[1] PIK3CA_B_D 💬 Longevity regulating pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Longevity regulating pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 296. Longevity regulating pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
297	Longevity regulating pathway 💬	[1] PIK3CA_B_D 💬 Longevity regulating pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Longevity regulating pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 297. Longevity regulating pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
298	Longevity regulating pathway 💬	[1] PIK3CA_B_D 💬 Longevity regulating pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Longevity regulating pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 298. Longevity regulating pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
299	Longevity regulating pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Longevity regulating pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Longevity regulating pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 299. Longevity regulating pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
300	Longevity regulating pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Longevity regulating pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Longevity regulating pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 300. Longevity regulating pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
301	Longevity regulating pathway - multiple species 💬	[1] PIK3CA_B_D 💬 Longevity regulating pathway - multiple species × Name Full Name PIK3CA_B_D	Alpelisib 💬 Longevity regulating pathway - multiple species × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 301. Longevity regulating pathway - multiple species × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
302	Longevity regulating pathway - multiple species 💬	[1] PIK3CA_B_D 💬 Longevity regulating pathway - multiple species × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Longevity regulating pathway - multiple species × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 302. Longevity regulating pathway - multiple species × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
303	Longevity regulating pathway - multiple species 💬	[1] PIK3CA_B_D 💬 Longevity regulating pathway - multiple species × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Longevity regulating pathway - multiple species × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 303. Longevity regulating pathway - multiple species × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
304	Longevity regulating pathway - multiple species 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Longevity regulating pathway - multiple species × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Longevity regulating pathway - multiple species × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 304. Longevity regulating pathway - multiple species × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
305	Longevity regulating pathway - multiple species 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Longevity regulating pathway - multiple species × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Longevity regulating pathway - multiple species × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 305. Longevity regulating pathway - multiple species × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
306	Measles 💬	[1] PIK3CA_B_D 💬 Measles × Name Full Name PIK3CA_B_D	Alpelisib 💬 Measles × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 306. Measles × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
307	Measles 💬	[1] PIK3CA_B_D 💬 Measles × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Measles × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 307. Measles × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
308	Measles 💬	[1] PIK3CA_B_D 💬 Measles × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Measles × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 308. Measles × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
309	Measles 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Measles × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Measles × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 309. Measles × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
310	Measles 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Measles × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Measles × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 310. Measles × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
311	Melanoma 💬	[1] PIK3CA_B_D 💬 Melanoma × Name Full Name PIK3CA_B_D	Alpelisib 💬 Melanoma × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 311. Melanoma × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
312	Melanoma 💬	[1] PIK3CA_B_D 💬 Melanoma × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Melanoma × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 312. Melanoma × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
313	Melanoma 💬	[1] PIK3CA_B_D 💬 Melanoma × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Melanoma × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 313. Melanoma × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
314	Melanoma 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Melanoma × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Melanoma × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 314. Melanoma × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
315	Melanoma 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Melanoma × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Melanoma × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 315. Melanoma × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
316	MicroRNAs in cancer 💬	[1] PIK3CA_B_D 💬 MicroRNAs in cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 MicroRNAs in cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 316. MicroRNAs in cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
317	MicroRNAs in cancer 💬	[1] PIK3CA_B_D 💬 MicroRNAs in cancer × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 MicroRNAs in cancer × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 317. MicroRNAs in cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
318	MicroRNAs in cancer 💬	[1] PIK3CA_B_D 💬 MicroRNAs in cancer × Name Full Name PIK3CA_B_D	Parsaclisib 💬 MicroRNAs in cancer × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 318. MicroRNAs in cancer × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
319	MicroRNAs in cancer 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 MicroRNAs in cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 MicroRNAs in cancer × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 319. MicroRNAs in cancer × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
320	MicroRNAs in cancer 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 MicroRNAs in cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 MicroRNAs in cancer × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 320. MicroRNAs in cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
321	mTOR signaling pathway 💬	[1] PIK3CA_B_D 💬 mTOR signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 mTOR signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 321. mTOR signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
322	mTOR signaling pathway 💬	[1] PIK3CA_B_D 💬 mTOR signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 mTOR signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 322. mTOR signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
323	mTOR signaling pathway 💬	[1] PIK3CA_B_D 💬 mTOR signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 mTOR signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 323. mTOR signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
324	mTOR signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 mTOR signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 mTOR signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 324. mTOR signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
325	mTOR signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 mTOR signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 mTOR signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 325. mTOR signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
326	Natural killer cell mediated cytotoxicity 💬	[1] PIK3CA_B_D 💬 Natural killer cell mediated cytotoxicity × Name Full Name PIK3CA_B_D	Alpelisib 💬 Natural killer cell mediated cytotoxicity × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 326. Natural killer cell mediated cytotoxicity × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
327	Natural killer cell mediated cytotoxicity 💬	[1] PIK3CA_B_D 💬 Natural killer cell mediated cytotoxicity × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Natural killer cell mediated cytotoxicity × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 327. Natural killer cell mediated cytotoxicity × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
328	Natural killer cell mediated cytotoxicity 💬	[1] PIK3CA_B_D 💬 Natural killer cell mediated cytotoxicity × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Natural killer cell mediated cytotoxicity × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 328. Natural killer cell mediated cytotoxicity × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
329	Natural killer cell mediated cytotoxicity 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Natural killer cell mediated cytotoxicity × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Natural killer cell mediated cytotoxicity × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 329. Natural killer cell mediated cytotoxicity × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
330	Natural killer cell mediated cytotoxicity 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Natural killer cell mediated cytotoxicity × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Natural killer cell mediated cytotoxicity × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 330. Natural killer cell mediated cytotoxicity × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
331	Neurotrophin signaling pathway 💬	[1] PIK3CA_B_D 💬 Neurotrophin signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Neurotrophin signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 331. Neurotrophin signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
332	Neurotrophin signaling pathway 💬	[1] PIK3CA_B_D 💬 Neurotrophin signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Neurotrophin signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 332. Neurotrophin signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
333	Neurotrophin signaling pathway 💬	[1] PIK3CA_B_D 💬 Neurotrophin signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Neurotrophin signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 333. Neurotrophin signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
334	Neurotrophin signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Neurotrophin signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Neurotrophin signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 334. Neurotrophin signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
335	Neurotrophin signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Neurotrophin signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Neurotrophin signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 335. Neurotrophin signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
336	Neutrophil extracellular trap formation 💬	[1] PIK3CA_B_D 💬 Neutrophil extracellular trap formation × Name Full Name PIK3CA_B_D	Alpelisib 💬 Neutrophil extracellular trap formation × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 336. Neutrophil extracellular trap formation × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
337	Neutrophil extracellular trap formation 💬	[1] PIK3CA_B_D 💬 Neutrophil extracellular trap formation × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Neutrophil extracellular trap formation × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 337. Neutrophil extracellular trap formation × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
338	Neutrophil extracellular trap formation 💬	[1] PIK3CA_B_D 💬 Neutrophil extracellular trap formation × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Neutrophil extracellular trap formation × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 338. Neutrophil extracellular trap formation × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
339	Neutrophil extracellular trap formation 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Neutrophil extracellular trap formation × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Neutrophil extracellular trap formation × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 339. Neutrophil extracellular trap formation × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
340	Neutrophil extracellular trap formation 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Neutrophil extracellular trap formation × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Neutrophil extracellular trap formation × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 340. Neutrophil extracellular trap formation × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
341	Non-alcoholic fatty liver disease 💬	[1] PIK3CA_B_D 💬 Non-alcoholic fatty liver disease × Name Full Name PIK3CA_B_D	Alpelisib 💬 Non-alcoholic fatty liver disease × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 341. Non-alcoholic fatty liver disease × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
342	Non-alcoholic fatty liver disease 💬	[1] PIK3CA_B_D 💬 Non-alcoholic fatty liver disease × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Non-alcoholic fatty liver disease × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 342. Non-alcoholic fatty liver disease × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
343	Non-alcoholic fatty liver disease 💬	[1] PIK3CA_B_D 💬 Non-alcoholic fatty liver disease × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Non-alcoholic fatty liver disease × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 343. Non-alcoholic fatty liver disease × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
344	Non-alcoholic fatty liver disease 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Non-alcoholic fatty liver disease × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Non-alcoholic fatty liver disease × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 344. Non-alcoholic fatty liver disease × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
345	Non-alcoholic fatty liver disease 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Non-alcoholic fatty liver disease × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Non-alcoholic fatty liver disease × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 345. Non-alcoholic fatty liver disease × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
346	Non-small cell lung cancer 💬	[1] PIK3CA_B_D 💬 Non-small cell lung cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Non-small cell lung cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 346. Non-small cell lung cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
347	Non-small cell lung cancer 💬	[1] PIK3CA_B_D 💬 Non-small cell lung cancer × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Non-small cell lung cancer × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 347. Non-small cell lung cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
348	Non-small cell lung cancer 💬	[1] PIK3CA_B_D 💬 Non-small cell lung cancer × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Non-small cell lung cancer × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 348. Non-small cell lung cancer × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
349	Non-small cell lung cancer 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Non-small cell lung cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Non-small cell lung cancer × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 349. Non-small cell lung cancer × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
350	Non-small cell lung cancer 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Non-small cell lung cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Non-small cell lung cancer × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 350. Non-small cell lung cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
351	Osteoclast differentiation 💬	[1] PIK3CA_B_D 💬 Osteoclast differentiation × Name Full Name PIK3CA_B_D	Alpelisib 💬 Osteoclast differentiation × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 351. Osteoclast differentiation × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
352	Osteoclast differentiation 💬	[1] PIK3CA_B_D 💬 Osteoclast differentiation × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Osteoclast differentiation × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 352. Osteoclast differentiation × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
353	Osteoclast differentiation 💬	[1] PIK3CA_B_D 💬 Osteoclast differentiation × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Osteoclast differentiation × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 353. Osteoclast differentiation × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
354	Osteoclast differentiation 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Osteoclast differentiation × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Osteoclast differentiation × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 354. Osteoclast differentiation × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
355	Osteoclast differentiation 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Osteoclast differentiation × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Osteoclast differentiation × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 355. Osteoclast differentiation × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
356	Pancreatic cancer 💬	[1] PIK3CA_B_D 💬 Pancreatic cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Pancreatic cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 356. Pancreatic cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
357	Pancreatic cancer 💬	[1] PIK3CA_B_D 💬 Pancreatic cancer × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Pancreatic cancer × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 357. Pancreatic cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
358	Pancreatic cancer 💬	[1] PIK3CA_B_D 💬 Pancreatic cancer × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Pancreatic cancer × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 358. Pancreatic cancer × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
359	Pancreatic cancer 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Pancreatic cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Pancreatic cancer × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 359. Pancreatic cancer × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
360	Pancreatic cancer 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Pancreatic cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Pancreatic cancer × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 360. Pancreatic cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
361	Pathways in cancer 💬	[1] PIK3CA_B_D 💬 Pathways in cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Pathways in cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 361. Pathways in cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
362	Pathways in cancer 💬	[1] PIK3CA_B_D 💬 Pathways in cancer × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Pathways in cancer × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 362. Pathways in cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
363	Pathways in cancer 💬	[1] PIK3CA_B_D 💬 Pathways in cancer × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Pathways in cancer × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 363. Pathways in cancer × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
364	Pathways in cancer 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Pathways in cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Pathways in cancer × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 364. Pathways in cancer × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
365	Pathways in cancer 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Pathways in cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Pathways in cancer × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 365. Pathways in cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
366	PD-L1 expression and PD-1 checkpoint pathway in cancer 💬	[1] PIK3CA_B_D 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 366. PD-L1 expression and PD-1 checkpoint pathway in cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
367	PD-L1 expression and PD-1 checkpoint pathway in cancer 💬	[1] PIK3CA_B_D 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 367. PD-L1 expression and PD-1 checkpoint pathway in cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
368	PD-L1 expression and PD-1 checkpoint pathway in cancer 💬	[1] PIK3CA_B_D 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Full Name PIK3CA_B_D	Parsaclisib 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 368. PD-L1 expression and PD-1 checkpoint pathway in cancer × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
369	PD-L1 expression and PD-1 checkpoint pathway in cancer 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 369. PD-L1 expression and PD-1 checkpoint pathway in cancer × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
370	PD-L1 expression and PD-1 checkpoint pathway in cancer 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 PD-L1 expression and PD-1 checkpoint pathway in cancer × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 370. PD-L1 expression and PD-1 checkpoint pathway in cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
371	Phosphatidylinositol signaling system 💬	[1] PIK3CA_B_D 💬 Phosphatidylinositol signaling system × Name Full Name PIK3CA_B_D	Alpelisib 💬 Phosphatidylinositol signaling system × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 371. Phosphatidylinositol signaling system × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
372	Phosphatidylinositol signaling system 💬	[1] PIK3CA_B_D 💬 Phosphatidylinositol signaling system × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Phosphatidylinositol signaling system × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 372. Phosphatidylinositol signaling system × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
373	Phosphatidylinositol signaling system 💬	[1] PIK3CA_B_D 💬 Phosphatidylinositol signaling system × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Phosphatidylinositol signaling system × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 373. Phosphatidylinositol signaling system × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
374	Phosphatidylinositol signaling system 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Phosphatidylinositol signaling system × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Phosphatidylinositol signaling system × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 374. Phosphatidylinositol signaling system × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
375	Phosphatidylinositol signaling system 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Phosphatidylinositol signaling system × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Phosphatidylinositol signaling system × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 375. Phosphatidylinositol signaling system × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
376	Phospholipase D signaling pathway 💬	[1] PIK3CA_B_D 💬 Phospholipase D signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Phospholipase D signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 376. Phospholipase D signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
377	Phospholipase D signaling pathway 💬	[1] PIK3CA_B_D 💬 Phospholipase D signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Phospholipase D signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 377. Phospholipase D signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
378	Phospholipase D signaling pathway 💬	[1] PIK3CA_B_D 💬 Phospholipase D signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Phospholipase D signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 378. Phospholipase D signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
379	Phospholipase D signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Phospholipase D signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Phospholipase D signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 379. Phospholipase D signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
380	Phospholipase D signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Phospholipase D signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Phospholipase D signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 380. Phospholipase D signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
381	PI3K-Akt signaling pathway 💬	[1] PIK3CA_B_D 💬 PI3K-Akt signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 PI3K-Akt signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 381. PI3K-Akt signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
382	PI3K-Akt signaling pathway 💬	[1] PIK3CA_B_D 💬 PI3K-Akt signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 PI3K-Akt signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 382. PI3K-Akt signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
383	PI3K-Akt signaling pathway 💬	[1] PIK3CA_B_D 💬 PI3K-Akt signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 PI3K-Akt signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 383. PI3K-Akt signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
384	PI3K-Akt signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 PI3K-Akt signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 PI3K-Akt signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 384. PI3K-Akt signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
385	PI3K-Akt signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 PI3K-Akt signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 PI3K-Akt signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 385. PI3K-Akt signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
386	Platelet activation 💬	[1] PIK3CA_B_D 💬 Platelet activation × Name Full Name PIK3CA_B_D	Alpelisib 💬 Platelet activation × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 386. Platelet activation × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
387	Platelet activation 💬	[1] PIK3CA_B_D 💬 Platelet activation × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Platelet activation × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 387. Platelet activation × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
388	Platelet activation 💬	[1] PIK3CA_B_D 💬 Platelet activation × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Platelet activation × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 388. Platelet activation × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
389	Platelet activation 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Platelet activation × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Platelet activation × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 389. Platelet activation × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
390	Platelet activation 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Platelet activation × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Platelet activation × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 390. Platelet activation × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
391	Prion disease 💬	[1] PIK3CA_B_D 💬 Prion disease × Name Full Name PIK3CA_B_D	Alpelisib 💬 Prion disease × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 391. Prion disease × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
392	Prion disease 💬	[1] PIK3CA_B_D 💬 Prion disease × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Prion disease × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 392. Prion disease × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
393	Prion disease 💬	[1] PIK3CA_B_D 💬 Prion disease × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Prion disease × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 393. Prion disease × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
394	Prion disease 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Prion disease × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Prion disease × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 394. Prion disease × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
395	Prion disease 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Prion disease × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Prion disease × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 395. Prion disease × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
396	Progesterone-mediated oocyte maturation 💬	[1] PIK3CA_B_D 💬 Progesterone-mediated oocyte maturation × Name Full Name PIK3CA_B_D	Alpelisib 💬 Progesterone-mediated oocyte maturation × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 396. Progesterone-mediated oocyte maturation × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
397	Progesterone-mediated oocyte maturation 💬	[1] PIK3CA_B_D 💬 Progesterone-mediated oocyte maturation × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Progesterone-mediated oocyte maturation × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 397. Progesterone-mediated oocyte maturation × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
398	Progesterone-mediated oocyte maturation 💬	[1] PIK3CA_B_D 💬 Progesterone-mediated oocyte maturation × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Progesterone-mediated oocyte maturation × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 398. Progesterone-mediated oocyte maturation × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
399	Progesterone-mediated oocyte maturation 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Progesterone-mediated oocyte maturation × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Progesterone-mediated oocyte maturation × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 399. Progesterone-mediated oocyte maturation × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
400	Progesterone-mediated oocyte maturation 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Progesterone-mediated oocyte maturation × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Progesterone-mediated oocyte maturation × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 400. Progesterone-mediated oocyte maturation × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
401	Prolactin signaling pathway 💬	[1] PIK3CA_B_D 💬 Prolactin signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Prolactin signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 401. Prolactin signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
402	Prolactin signaling pathway 💬	[1] PIK3CA_B_D 💬 Prolactin signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Prolactin signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 402. Prolactin signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
403	Prolactin signaling pathway 💬	[1] PIK3CA_B_D 💬 Prolactin signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Prolactin signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 403. Prolactin signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
404	Prolactin signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Prolactin signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Prolactin signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 404. Prolactin signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
405	Prolactin signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Prolactin signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Prolactin signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 405. Prolactin signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
406	Prostate cancer 💬	[1] PIK3CA_B_D 💬 Prostate cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Prostate cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 406. Prostate cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
407	Prostate cancer 💬	[1] PIK3CA_B_D 💬 Prostate cancer × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Prostate cancer × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 407. Prostate cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
408	Prostate cancer 💬	[1] PIK3CA_B_D 💬 Prostate cancer × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Prostate cancer × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 408. Prostate cancer × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
409	Prostate cancer 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Prostate cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Prostate cancer × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 409. Prostate cancer × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
410	Prostate cancer 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Prostate cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Prostate cancer × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 410. Prostate cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
411	Proteoglycans in cancer 💬	[1] PIK3CA_B_D 💬 Proteoglycans in cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Proteoglycans in cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 411. Proteoglycans in cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
412	Proteoglycans in cancer 💬	[1] PIK3CA_B_D 💬 Proteoglycans in cancer × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Proteoglycans in cancer × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 412. Proteoglycans in cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
413	Proteoglycans in cancer 💬	[1] PIK3CA_B_D 💬 Proteoglycans in cancer × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Proteoglycans in cancer × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 413. Proteoglycans in cancer × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
414	Proteoglycans in cancer 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Proteoglycans in cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Proteoglycans in cancer × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 414. Proteoglycans in cancer × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
415	Proteoglycans in cancer 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Proteoglycans in cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Proteoglycans in cancer × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 415. Proteoglycans in cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
416	Rap1 signaling pathway 💬	[1] PIK3CA_B_D 💬 Rap1 signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Rap1 signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 416. Rap1 signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
417	Rap1 signaling pathway 💬	[1] PIK3CA_B_D 💬 Rap1 signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Rap1 signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 417. Rap1 signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
418	Rap1 signaling pathway 💬	[1] PIK3CA_B_D 💬 Rap1 signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Rap1 signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 418. Rap1 signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
419	Rap1 signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Rap1 signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Rap1 signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 419. Rap1 signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
420	Rap1 signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Rap1 signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Rap1 signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 420. Rap1 signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
421	Ras signaling pathway 💬	[1] PIK3CA_B_D 💬 Ras signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Ras signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 421. Ras signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
422	Ras signaling pathway 💬	[1] PIK3CA_B_D 💬 Ras signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Ras signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 422. Ras signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
423	Ras signaling pathway 💬	[1] PIK3CA_B_D 💬 Ras signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Ras signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 423. Ras signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
424	Ras signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Ras signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Ras signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 424. Ras signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
425	Ras signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Ras signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Ras signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 425. Ras signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
426	Regulation of actin cytoskeleton 💬	[1] PIK3CA_B_D 💬 Regulation of actin cytoskeleton × Name Full Name PIK3CA_B_D	Alpelisib 💬 Regulation of actin cytoskeleton × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 426. Regulation of actin cytoskeleton × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
427	Regulation of actin cytoskeleton 💬	[1] PIK3CA_B_D 💬 Regulation of actin cytoskeleton × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Regulation of actin cytoskeleton × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 427. Regulation of actin cytoskeleton × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
428	Regulation of actin cytoskeleton 💬	[1] PIK3CA_B_D 💬 Regulation of actin cytoskeleton × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Regulation of actin cytoskeleton × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 428. Regulation of actin cytoskeleton × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
429	Regulation of actin cytoskeleton 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Regulation of actin cytoskeleton × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Regulation of actin cytoskeleton × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 429. Regulation of actin cytoskeleton × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
430	Regulation of actin cytoskeleton 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Regulation of actin cytoskeleton × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Regulation of actin cytoskeleton × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 430. Regulation of actin cytoskeleton × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
431	Regulation of lipolysis in adipocytes 💬	[1] PIK3CA_B_D 💬 Regulation of lipolysis in adipocytes × Name Full Name PIK3CA_B_D	Alpelisib 💬 Regulation of lipolysis in adipocytes × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 431. Regulation of lipolysis in adipocytes × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
432	Regulation of lipolysis in adipocytes 💬	[1] PIK3CA_B_D 💬 Regulation of lipolysis in adipocytes × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Regulation of lipolysis in adipocytes × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 432. Regulation of lipolysis in adipocytes × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
433	Regulation of lipolysis in adipocytes 💬	[1] PIK3CA_B_D 💬 Regulation of lipolysis in adipocytes × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Regulation of lipolysis in adipocytes × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 433. Regulation of lipolysis in adipocytes × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
434	Regulation of lipolysis in adipocytes 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Regulation of lipolysis in adipocytes × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Regulation of lipolysis in adipocytes × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 434. Regulation of lipolysis in adipocytes × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
435	Regulation of lipolysis in adipocytes 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Regulation of lipolysis in adipocytes × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Regulation of lipolysis in adipocytes × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 435. Regulation of lipolysis in adipocytes × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
436	Relaxin signaling pathway 💬	[1] PIK3CA_B_D 💬 Relaxin signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Relaxin signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 436. Relaxin signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
437	Relaxin signaling pathway 💬	[1] PIK3CA_B_D 💬 Relaxin signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Relaxin signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 437. Relaxin signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
438	Relaxin signaling pathway 💬	[1] PIK3CA_B_D 💬 Relaxin signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Relaxin signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 438. Relaxin signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
439	Relaxin signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Relaxin signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Relaxin signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 439. Relaxin signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
440	Relaxin signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Relaxin signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Relaxin signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 440. Relaxin signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
441	Renal cell carcinoma 💬	[1] PIK3CA_B_D 💬 Renal cell carcinoma × Name Full Name PIK3CA_B_D	Alpelisib 💬 Renal cell carcinoma × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 441. Renal cell carcinoma × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
442	Renal cell carcinoma 💬	[1] PIK3CA_B_D 💬 Renal cell carcinoma × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Renal cell carcinoma × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 442. Renal cell carcinoma × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
443	Renal cell carcinoma 💬	[1] PIK3CA_B_D 💬 Renal cell carcinoma × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Renal cell carcinoma × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 443. Renal cell carcinoma × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
444	Renal cell carcinoma 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Renal cell carcinoma × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Renal cell carcinoma × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 444. Renal cell carcinoma × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
445	Renal cell carcinoma 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Renal cell carcinoma × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Renal cell carcinoma × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 445. Renal cell carcinoma × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
446	Salmonella infection 💬	[1] PIK3CA_B_D 💬 Salmonella infection × Name Full Name PIK3CA_B_D	Alpelisib 💬 Salmonella infection × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 446. Salmonella infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
447	Salmonella infection 💬	[1] PIK3CA_B_D 💬 Salmonella infection × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Salmonella infection × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 447. Salmonella infection × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
448	Salmonella infection 💬	[1] PIK3CA_B_D 💬 Salmonella infection × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Salmonella infection × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 448. Salmonella infection × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
449	Salmonella infection 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Salmonella infection × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Salmonella infection × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 449. Salmonella infection × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
450	Salmonella infection 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Salmonella infection × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Salmonella infection × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 450. Salmonella infection × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
451	Shigellosis 💬	[1] PIK3CA_B_D 💬 Shigellosis × Name Full Name PIK3CA_B_D	Alpelisib 💬 Shigellosis × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 451. Shigellosis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
452	Shigellosis 💬	[1] PIK3CA_B_D 💬 Shigellosis × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Shigellosis × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 452. Shigellosis × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
453	Shigellosis 💬	[1] PIK3CA_B_D 💬 Shigellosis × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Shigellosis × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 453. Shigellosis × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
454	Shigellosis 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Shigellosis × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Shigellosis × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 454. Shigellosis × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
455	Shigellosis 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Shigellosis × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Shigellosis × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 455. Shigellosis × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
456	Signaling pathways regulating pluripotency of stem cells 💬	[1] PIK3CA_B_D 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name PIK3CA_B_D	Alpelisib 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 456. Signaling pathways regulating pluripotency of stem cells × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
457	Signaling pathways regulating pluripotency of stem cells 💬	[1] PIK3CA_B_D 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 457. Signaling pathways regulating pluripotency of stem cells × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
458	Signaling pathways regulating pluripotency of stem cells 💬	[1] PIK3CA_B_D 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 458. Signaling pathways regulating pluripotency of stem cells × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
459	Signaling pathways regulating pluripotency of stem cells 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 459. Signaling pathways regulating pluripotency of stem cells × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
460	Signaling pathways regulating pluripotency of stem cells 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Signaling pathways regulating pluripotency of stem cells × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Signaling pathways regulating pluripotency of stem cells × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 460. Signaling pathways regulating pluripotency of stem cells × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
461	Small cell lung cancer 💬	[1] PIK3CA_B_D 💬 Small cell lung cancer × Name Full Name PIK3CA_B_D	Alpelisib 💬 Small cell lung cancer × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 461. Small cell lung cancer × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
462	Small cell lung cancer 💬	[1] PIK3CA_B_D 💬 Small cell lung cancer × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Small cell lung cancer × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 462. Small cell lung cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
463	Small cell lung cancer 💬	[1] PIK3CA_B_D 💬 Small cell lung cancer × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Small cell lung cancer × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 463. Small cell lung cancer × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
464	Small cell lung cancer 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Small cell lung cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Small cell lung cancer × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 464. Small cell lung cancer × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
465	Small cell lung cancer 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Small cell lung cancer × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Small cell lung cancer × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 465. Small cell lung cancer × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
466	Sphingolipid signaling pathway 💬	[1] PIK3CA_B_D 💬 Sphingolipid signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Sphingolipid signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 466. Sphingolipid signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
467	Sphingolipid signaling pathway 💬	[1] PIK3CA_B_D 💬 Sphingolipid signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Sphingolipid signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 467. Sphingolipid signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
468	Sphingolipid signaling pathway 💬	[1] PIK3CA_B_D 💬 Sphingolipid signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Sphingolipid signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 468. Sphingolipid signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
469	Sphingolipid signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Sphingolipid signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Sphingolipid signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 469. Sphingolipid signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
470	Sphingolipid signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Sphingolipid signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Sphingolipid signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 470. Sphingolipid signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
471	Spinocerebellar ataxia 💬	[1] PIK3CA_B_D 💬 Spinocerebellar ataxia × Name Full Name PIK3CA_B_D	Alpelisib 💬 Spinocerebellar ataxia × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 471. Spinocerebellar ataxia × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
472	Spinocerebellar ataxia 💬	[1] PIK3CA_B_D 💬 Spinocerebellar ataxia × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Spinocerebellar ataxia × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 472. Spinocerebellar ataxia × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
473	Spinocerebellar ataxia 💬	[1] PIK3CA_B_D 💬 Spinocerebellar ataxia × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Spinocerebellar ataxia × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 473. Spinocerebellar ataxia × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
474	Spinocerebellar ataxia 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Spinocerebellar ataxia × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Spinocerebellar ataxia × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 474. Spinocerebellar ataxia × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
475	Spinocerebellar ataxia 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Spinocerebellar ataxia × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Spinocerebellar ataxia × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 475. Spinocerebellar ataxia × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
476	T cell receptor signaling pathway 💬	[1] PIK3CA_B_D 💬 T cell receptor signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 T cell receptor signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 476. T cell receptor signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
477	T cell receptor signaling pathway 💬	[1] PIK3CA_B_D 💬 T cell receptor signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 T cell receptor signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 477. T cell receptor signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
478	T cell receptor signaling pathway 💬	[1] PIK3CA_B_D 💬 T cell receptor signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 T cell receptor signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 478. T cell receptor signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
479	T cell receptor signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 T cell receptor signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 T cell receptor signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 479. T cell receptor signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
480	T cell receptor signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 T cell receptor signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 T cell receptor signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 480. T cell receptor signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
481	Thyroid hormone signaling pathway 💬	[1] PIK3CA_B_D 💬 Thyroid hormone signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Thyroid hormone signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 481. Thyroid hormone signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
482	Thyroid hormone signaling pathway 💬	[1] PIK3CA_B_D 💬 Thyroid hormone signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Thyroid hormone signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 482. Thyroid hormone signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
483	Thyroid hormone signaling pathway 💬	[1] PIK3CA_B_D 💬 Thyroid hormone signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Thyroid hormone signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 483. Thyroid hormone signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
484	Thyroid hormone signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Thyroid hormone signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Thyroid hormone signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 484. Thyroid hormone signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
485	Thyroid hormone signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Thyroid hormone signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Thyroid hormone signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 485. Thyroid hormone signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
486	TNF signaling pathway 💬	[1] PIK3CA_B_D 💬 TNF signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 TNF signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 486. TNF signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
487	TNF signaling pathway 💬	[1] PIK3CA_B_D 💬 TNF signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 TNF signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 487. TNF signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
488	TNF signaling pathway 💬	[1] PIK3CA_B_D 💬 TNF signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 TNF signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 488. TNF signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
489	TNF signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 TNF signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 TNF signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 489. TNF signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
490	TNF signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 TNF signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 TNF signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 490. TNF signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
491	Toll-like receptor signaling pathway 💬	[1] PIK3CA_B_D 💬 Toll-like receptor signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 Toll-like receptor signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 491. Toll-like receptor signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
492	Toll-like receptor signaling pathway 💬	[1] PIK3CA_B_D 💬 Toll-like receptor signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Toll-like receptor signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 492. Toll-like receptor signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
493	Toll-like receptor signaling pathway 💬	[1] PIK3CA_B_D 💬 Toll-like receptor signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Toll-like receptor signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 493. Toll-like receptor signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
494	Toll-like receptor signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Toll-like receptor signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Toll-like receptor signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 494. Toll-like receptor signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
495	Toll-like receptor signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Toll-like receptor signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Toll-like receptor signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 495. Toll-like receptor signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
496	Type II diabetes mellitus 💬	[1] PIK3CA_B_D 💬 Type II diabetes mellitus × Name Full Name PIK3CA_B_D	Alpelisib 💬 Type II diabetes mellitus × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 496. Type II diabetes mellitus × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
497	Type II diabetes mellitus 💬	[1] PIK3CA_B_D 💬 Type II diabetes mellitus × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Type II diabetes mellitus × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 497. Type II diabetes mellitus × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
498	Type II diabetes mellitus 💬	[1] PIK3CA_B_D 💬 Type II diabetes mellitus × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Type II diabetes mellitus × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 498. Type II diabetes mellitus × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
499	Type II diabetes mellitus 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Type II diabetes mellitus × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Type II diabetes mellitus × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 499. Type II diabetes mellitus × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
500	Type II diabetes mellitus 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Type II diabetes mellitus × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Type II diabetes mellitus × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 500. Type II diabetes mellitus × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
501	VEGF signaling pathway 💬	[1] PIK3CA_B_D 💬 VEGF signaling pathway × Name Full Name PIK3CA_B_D	Alpelisib 💬 VEGF signaling pathway × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 501. VEGF signaling pathway × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
502	VEGF signaling pathway 💬	[1] PIK3CA_B_D 💬 VEGF signaling pathway × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 VEGF signaling pathway × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 502. VEGF signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
503	VEGF signaling pathway 💬	[1] PIK3CA_B_D 💬 VEGF signaling pathway × Name Full Name PIK3CA_B_D	Parsaclisib 💬 VEGF signaling pathway × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 503. VEGF signaling pathway × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
504	VEGF signaling pathway 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 VEGF signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 VEGF signaling pathway × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 504. VEGF signaling pathway × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
505	VEGF signaling pathway 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 VEGF signaling pathway × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 VEGF signaling pathway × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 505. VEGF signaling pathway × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
506	Viral carcinogenesis 💬	[1] PIK3CA_B_D 💬 Viral carcinogenesis × Name Full Name PIK3CA_B_D	Alpelisib 💬 Viral carcinogenesis × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 506. Viral carcinogenesis × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
507	Viral carcinogenesis 💬	[1] PIK3CA_B_D 💬 Viral carcinogenesis × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Viral carcinogenesis × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 507. Viral carcinogenesis × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
508	Viral carcinogenesis 💬	[1] PIK3CA_B_D 💬 Viral carcinogenesis × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Viral carcinogenesis × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 508. Viral carcinogenesis × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
509	Viral carcinogenesis 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Viral carcinogenesis × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Viral carcinogenesis × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 509. Viral carcinogenesis × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
510	Viral carcinogenesis 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Viral carcinogenesis × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Viral carcinogenesis × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 510. Viral carcinogenesis × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
511	Yersinia infection 💬	[1] PIK3CA_B_D 💬 Yersinia infection × Name Full Name PIK3CA_B_D	Alpelisib 💬 Yersinia infection × Name Other Names Alpelisib Alpelisib (JAN/USAN/INN) Piqray (TN) Vijoice (TN) PIQRAY VIJOICE	Alpelisib	[4] 138, 278, 279, 280 💬 511. Yersinia infection × Disease ID Name 138 Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Lissencephaly;Ectopic gray matter;Polymicrogyria;Cortical dysplasia with cobblestone appearance;Schizencephaly;orencephaly;Miller-Dieker syndrome; 278 Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation; 279 Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;Gigantic venous malformation; 280 Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
512	Yersinia infection 💬	[1] PIK3CA_B_D 💬 Yersinia infection × Name Full Name PIK3CA_B_D	Leniolisib phosphate 💬 Yersinia infection × Name Other Names Leniolisib phosphate Leniolisib phosphate (JAN/USAN) Joenja (TN) JOENJA	Leniolisib	[2] 53, 65 💬 512. Yersinia infection × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;
513	Yersinia infection 💬	[1] PIK3CA_B_D 💬 Yersinia infection × Name Full Name PIK3CA_B_D	Parsaclisib 💬 Yersinia infection × Name Other Names Parsaclisib Parsaclisib (USAN/INN)	Parsaclisib	[3] 35, 53, 61 💬 513. Yersinia infection × Disease ID Name 35 Pemphigus; 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 61 Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
514	Yersinia infection 💬	[2] PIK3CA_B_D, PIK3CA_B_D 💬 Yersinia infection × Name Full Name PIK3CA_B_D PIK3CA_B_D	Copanlisib 💬 Yersinia infection × Name Other Names Copanlisib Copanlisib (USAN/INN)	Copanlisib	[1] 121 💬 514. Yersinia infection × Disease ID Name 121 Neurodegeneration with brain iron accumulation;NBIA;Neuroferritinopathy;FTL;NBIA3;Pantothenate kinase-associated neurodegeneration;PKAN;NBIA1;Infantile neuroaxonal dystrophy;INAD;NBIA2;Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration;PLAN;NBIA/DYT/PARK-PLA2G6;Mitochondrial membrane protein-associated neurodegeneration;MPAN;NBIA4;Static encephalopathy of childhood with neurodegeneration in adulthood;Beta-propeller protein-associated neurodegeneration;BPAN;NBIA5;Coenzyme A synthase (COASY) protein-associated neurodegeneration;CoPAN;NBIA6;Aceruloplaminemia;Hereditary ceruloplasmin deficiency;Fatty Acid Hydroxylase-associated neurodegeneration;FAHN;Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35;Kufor-Rakeb syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;
515	Yersinia infection 💬	[3] PIK3CA_B_D, PIK3CA_B_D, PIK3CA_B_D 💬 Yersinia infection × Name Full Name PIK3CA_B_D PIK3CA_B_D PIK3CA_B_D	Leniolisib 💬 Yersinia infection × Name Other Names Leniolisib Leniolisib (USAN/INN)	Leniolisib	[2] 53, 65 💬 515. Yersinia infection × Disease ID Name 53 Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy; 65 Primary immunodeficiency;X-linked severe combined immunodeficiency;X-SCID;Reticular dysgenesis;Adenosine deaminase deficiency;Omenn syndrome;Purine nucleoside phosphorylase deficiency;CD8 deficiency;ZAP-70 deficiency;MHC class I deficiency;MHC class II deficiency;Other combined immunodeficiencies;Wiskott-Aldrich syndrome;WAS;Ataxia telangiectasia;Nijmegen breakage syndrome;Bloom syndrome;Immunodeficiency, centromere region instability, facial anomalies syndrome;ICF syndrome;PMS2 deficiency;Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome;RIDDLE syndrome;Schimke syndrome;Netherton syndrome;Thymic hypoplasia;DiGeorge syndrome;22q11.2 deletion syndrome;Hyper-IgE syndrome;Hepatic venoocclusive immunodeficiency;Immunodeficiency with central hepatic vein atresia;Dyskeratosis congenita;X-linked agammaglobulinaemia;Common variable immunodeficiency;Hyper-IgM syndrome;Isolated IgG subclass deficiency;Selective IgA deficiency;Specific antibody production deficiency;Infant transient hypogammaglobulinemia;Other predominantly antibody deficiencies;Chédiak-Higashi syndrome;Chediak-Higashi syndrome;X-linked lymphoproliferative syndrome;SAP deficiency;SH2D1A/SLAM-associated protein deficiency;XIAP deficiency;X-linked inhibitor of apoptosis deficiency;Autoimmune lymphoproliferative syndrome;ALPS;Other diseases of immune dysregulation;Familial hemophagocytic syndrome;FHPS;Familial hemophagocytic lymphohistiocytosis;FHL;Perforin deficiency;Munc13-4 deficiency;Syntaxin 11 deficiency;Munc18-2 deficiency;Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;APECED;Autoimmune polyglandular syndrome;APS;Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome;IPEX syndrome;CD25 deficiency;ITCH deficiency;Severe congenital neutropenia;Cyclic neutropenia;Other congenital defects of neutrophil function;p14 deficiency;Glycogen storage disease type Ib;Leukocyte adhesion deficiency;Shwachman-Diamond syndrome;Chronic granulomatous disease;Myeloperoxidase deficiency;Mendelian susceptibility to mycobacterial disease;MSMD;Other congenital defects of phagocyte function;Anhidrotic ectodermal dysplasia with immunodeficiency;EDA-ID;Interleukin-1 receptor-associated kinase-4 deficiency;IRAK4 deficiency;MyD88 deficiency;Chronic mucocutaneous candidiasis;Other defects in innate immunity;Warts, hypogammaglobulinemia, infections, myelokathexis syndrome;WHIM syndrome;Congenital complement deficiency;C1q deficiency;C1r deficiency;C1s deficiency;C2 deficiency;C3 deficiency;C4 deficiency;C5 deficiency;C6 deficiency;C7 deficiency;C8 deficiency;C9 deficiency;Hereditary angioedema;C1 inhibitor deficiency;Inherited deficiency of complement system;Factor D deficiency;Factor I deficiency;Factor H deficiency;Properdin deficiency;MASP1 deficiency;MASP2 deficiency;3MC syndrome;Immunodeficiency associated with FCN3 mutation;FCN3;

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