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Gene

Search results

No.

KEGG PATHWAY
On map, Yellow: Drug target, Red: All disease-related

PI3K-Akt signaling pathway 💬

[1] BCL2 💬

Obatoclax mesylate 💬

Obatoclax

[1] 60 💬

PI3K-Akt signaling pathway 💬

[1] BCL2 💬

Sonrotoclax 💬

Sonrotoclax

[1] 28 💬

Disease ID

Name

Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis;

PI3K-Akt signaling pathway 💬

[1] BCL2 💬

Venetoclax 💬

Venetoclax

[2] 28, 85 💬

Disease ID

Name

Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;

PI3K-Akt signaling pathway 💬

[1] CASP9 💬

Rimiducid 💬

Rimiducid

[7] 19, 49, 60, 65, 284, 285, 326 💬

Disease ID	Name
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
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;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;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
326	Osteopetrosis;Neonatal/infantile osteopetrosis;Intermediate osteopetrosis;Delayed-onset osteopetrosis;

PI3K-Akt signaling pathway 💬

[1] CD19 💬

Blinatumomab 💬

Blinatumomab

[4] 11, 46, 49, 222 💬

Disease ID	Name
11	Myasthenia gravis;MG;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;

PI3K-Akt signaling pathway 💬

[1] CD19 💬

Inebilizumab 💬

Inebilizumab

[8] 11, 13, 46, 49, 51, 53, 95, 300 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
95	Autoimmune hepatitis;
300	IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;

PI3K-Akt signaling pathway 💬

[1] CD19 💬

Obecabtagene autoleucel 💬

Obecabtagene autoleucel

[2] 13, 49 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
49	Systemic lupus erythematosus;SLE;

PI3K-Akt signaling pathway 💬

[1] CD19 💬

Obexelimab 💬

Obexelimab

[4] 13, 49, 61, 300 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
49	Systemic lupus erythematosus;SLE;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
300	IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;

PI3K-Akt signaling pathway 💬

[1] CD19 💬

Tafasitamab 💬

Tafasitamab

[2] 49, 51 💬

PI3K-Akt signaling pathway 💬

[2] CDK4, CDK6 💬

Abemaciclib 💬

Abemaciclib

[1] 34 💬

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Acetylcholine chloride 💬

Acetylcholine

[1] 11 💬

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Atropine 💬

Atropine

[1] 2 💬

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Atropine sulfate 💬

Atropine

[1] 2 💬

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Bethanechol chloride 💬

Bethanechol

[1] 98 💬

Disease ID	Name
98	Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE;

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Blarcamesine 💬

Blarcamesine

[1] 156 💬

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Blarcamesine hydrochloride 💬

Blarcamesine

[1] 156 💬

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Chlorpromazine 💬

Chlorpromazine

[2] 120, 254 💬

Disease ID

Name

120

Hereditary dystonia;Primary dystonia;X-linked dystonia parkinsonism;Lubag;Segawa syndrome;SS;Dopa-responsive dystonia;DRD;Paroxysmal nonkinesigenic dyskinesia 1;PNKD1;Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity;Paroxysmal choreoathetosis and episodic ataxia and spasticity;CSE;Episodic kinesigenic dyskinesia 1;EKD1;Myoclonus-dystonia syndrome;MDS;Rapid-onset dystonia-parkinsonism;RDP;Alternating hemiplegia of childhood;AHC;Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss;CAPOS;Paroxysmal execise-induced dyskinesia;PED;Episodic kinesigenic dyskinesia 2;EKD2;Paroxysmal nonkinesigenic dyskinesia 2;PNKD2;MEPAN syndrome;

254

Porphyria;Acute intermittent porphyria;AIP;Hereditary coproporphyria;HCP;Variegate porphyria;VP;Erythropoietic protoporphyria;EPP;Porphyria cutanea tarda;PCT;Congenital erythropoietic porphyria;CEP;X-linked dominant protoporphyria;XLDP;Hepatoerythropoietic porphyria;HEP;

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Chlorpromazine hydrochloride 💬

Chlorpromazine

[2] 120, 254 💬

Disease ID

Name

120

254

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Methacholine chloride 💬

Methacholine

[2] 96, 340 💬

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Oxybutynin 💬

Oxybutynin

[3] 6 , 13, 53 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Oxybutynin chloride 💬

Oxybutynin

[3] 6 , 13, 53 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Propantheline bromide 💬

Propantheline

[1] 26 💬

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Propiverine hydrochloride 💬

Propiverine

[1] 226 💬

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Propiverine 💬

Propiverine

[1] 226 💬

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Rocuronium bromide 💬

Rocuronium

[2] 70, 296 💬

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Scopolamine 💬

Scopolamine

[1] 2 💬

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Scopolamine hydrobromide 💬

Scopolamine

[1] 2 💬

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Trihexyphenidyl hydrochloride 💬

Trihexyphenidyl

[2] 5 , 6 💬

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Trihexyphenidyl 💬

Trihexyphenidyl

[2] 5 , 6 💬

PI3K-Akt signaling pathway 💬

[2] CHRM1, CHRM2 💬

Tropicamide 💬

Tropicamide

[2] 6 , 19 💬

Disease ID

Name

Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;

Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis;

PI3K-Akt signaling pathway 💬

[1] CHRM2 💬

Fesoterodine 💬

Fesoterodine

[1] 6 💬

PI3K-Akt signaling pathway 💬

[1] CHRM2 💬

Fesoterodine fumarate 💬

Fesoterodine

[1] 6 💬

PI3K-Akt signaling pathway 💬

[1] CHRM2 💬

Pilocarpine 💬

Pilocarpine

[3] 6 , 53, 299 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
299	Cystic fibrosis;CF;

PI3K-Akt signaling pathway 💬

[1] CHRM2 💬

Pilocarpine hydrochloride 💬

Pilocarpine

[3] 6 , 53, 299 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
299	Cystic fibrosis;CF;

PI3K-Akt signaling pathway 💬

[1] CHRM2 💬

Pilocarpine nitrate 💬

Pilocarpine

[3] 6 , 53, 299 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
299	Cystic fibrosis;CF;

PI3K-Akt signaling pathway 💬

[1] CSF1R 💬

Axatilimab 💬

Axatilimab

[1] 85 💬

Disease ID	Name
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;

PI3K-Akt signaling pathway 💬

[9] CSF1R, FLT1, FLT3, FLT4, KDR, KIT, PDGFRA, PDGFRB, RET 💬

Name	Full Name
CSF1R	macrophage colony-stimulating factor 1 receptor isoform a precursor
FLT1	vascular endothelial growth factor receptor 1 isoform 1 precursor
FLT3	receptor-type tyrosine-protein kinase FLT3 precursor
FLT4	vascular endothelial growth factor receptor 3 isoform 1 precursor
KDR	vascular endothelial growth factor receptor 2 precursor
KIT	mast/stem cell growth factor receptor Kit isoform 1 precursor
PDGFRA	platelet-derived growth factor receptor alpha isoform 1 precursor
PDGFRB	platelet-derived growth factor receptor beta isoform 1 precursor
RET	proto-oncogene tyrosine-protein kinase receptor Ret isoform a precursor

Sunitinib malate 💬

Sunitinib

[2] 28, 34 💬

Disease ID

Name

Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;

PI3K-Akt signaling pathway 💬

[9] CSF1R, FLT1, FLT3, FLT4, KDR, KIT, PDGFRA, PDGFRB, RET 💬

Name	Full Name
CSF1R	macrophage colony-stimulating factor 1 receptor isoform a precursor
FLT1	vascular endothelial growth factor receptor 1 isoform 1 precursor
FLT3	receptor-type tyrosine-protein kinase FLT3 precursor
FLT4	vascular endothelial growth factor receptor 3 isoform 1 precursor
KDR	vascular endothelial growth factor receptor 2 precursor
KIT	mast/stem cell growth factor receptor Kit isoform 1 precursor
PDGFRA	platelet-derived growth factor receptor alpha isoform 1 precursor
PDGFRB	platelet-derived growth factor receptor beta isoform 1 precursor
RET	proto-oncogene tyrosine-protein kinase receptor Ret isoform a precursor

Sunitinib 💬

Sunitinib

[2] 28, 34 💬

Disease ID

Name

Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;

PI3K-Akt signaling pathway 💬

[1] CSF3R 💬

Filgrastim 💬

Filgrastim

[30] 2 , 6 , 13, 25, 26, 28, 34, 35, 38, 40, 41, 42, 45, 46, 47, 49, 51, 60, 62, 63, 65, 96, 113, 164, 256, 283, 284, 285, 296, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
28	Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
35	Pemphigus;
38	Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
47	Buerger disease;Thromboangiitis obliterans;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
60	Aplastic anemia;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
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;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	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
113	Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;Glycogen storage disease type 0;GSD0;Glycogen synthase deficiency;Glycogen storage disease type II;GSDII;Pompe disease;Pompe syndrome;Alpha-1,4-glucosidase acid deficiency;Glycogen storage disease type III;GSDIII;Cori disease;Cori syndrome;Forbes disease;Forbes syndrome;Glycogen debranching enzyme deficiency;Glycogen storage disease type IV;GSDIV;Andersen disease;Glycogen-branching enzyme deficiency;GBED;Glycogen storage disease type V;GSDV;McArdle disease;Muscle phosphorylase deficiency;Muscular phosphorylase deficiency;Glycogen storage disease type VII;GSDVII;Tarui disease;Tarui syndrome;Phosphofructokinase deficiency;PFK deficiency;Glycogen storage disease type IXd;GSDIXd;Phosphorylase kinase deficiency;Phosphoglycerate kinase deficiency;PGK deficiency;Glycogen storage disease type X;GSDX;Phosphoglycerate mutase deficiency;Glycogen storage diseass type XI;GSDXI;Kanno disease;Lactate dehydrogenase deficiency;Glycogen storage diseass type XII;GSDXII;Aldolase A deficiency;Glycogen storage diseass type XIII;GSDXIII;Beta-enolase deficiency;Glycogen storage diseass type XIV;GSDXIV;Phosphoglucomutase deficiency;Glycogen storage diseass type XV;GSDXV;Glycogenin 1 deficiency;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
296	Biliary atresia;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

PI3K-Akt signaling pathway 💬

[1] CSF3R 💬

Lenograstim 💬

Lenograstim

[8] 2 , 13, 16, 18, 19, 57, 65, 97 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
16	Crow-Fukase syndrome;Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome;POEMS syndrome;Takatsuki disease;Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome;PEP syndrome;
18	Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis;
57	Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM;
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;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;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;

PI3K-Akt signaling pathway 💬

[1] CSF3R 💬

Pegfilgrastim 💬

Pegfilgrastim

[1] 60 💬

PI3K-Akt signaling pathway 💬

[1] EGFR 💬

Cetuximab 💬

Cetuximab

[5] 34, 51, 86, 89, 331 💬

Disease ID	Name
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

PI3K-Akt signaling pathway 💬

[1] EGFR 💬

Erlotinib hydrochloride 💬

Erlotinib

[2] 94, 160 💬

Disease ID

Name

Primary sclerosing cholangitis;PSC;

160

Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Austin syndrome;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS;

PI3K-Akt signaling pathway 💬

[1] EGFR 💬

Erlotinib 💬

Erlotinib

[2] 94, 160 💬

Disease ID

Name

Primary sclerosing cholangitis;PSC;

160

PI3K-Akt signaling pathway 💬

[1] EGFR 💬

Gefitinib 💬

Gefitinib

[1] 75 💬

PI3K-Akt signaling pathway 💬

[1] EGFR 💬

Icotinib 💬

Icotinib

[1] 34 💬

PI3K-Akt signaling pathway 💬

[2] EGFR, ERBB2 💬

Lapatinib ditosylate 💬

Lapatinib

[3] 34, 74, 75 💬

Disease ID	Name
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
74	Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia;
75	Cushing disease;Cushing syndrome;

PI3K-Akt signaling pathway 💬

[2] EGFR, ERBB2 💬

Lapatinib 💬

Lapatinib

[3] 34, 74, 75 💬

Disease ID	Name
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
74	Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia;
75	Cushing disease;Cushing syndrome;

PI3K-Akt signaling pathway 💬

[3] EGFR, ERBB2, ERBB4 💬

Name	Full Name
EGFR	epidermal growth factor receptor isoform a precursor
ERBB2	receptor tyrosine-protein kinase erbB-2 isoform a precursor
ERBB4	receptor tyrosine-protein kinase erbB-4 isoform JM-a/CYT-1 precursor

Afatinib 💬

Afatinib

[1] 285 💬

PI3K-Akt signaling pathway 💬

[3] EGFR, ERBB2, ERBB4 💬

Name	Full Name
EGFR	epidermal growth factor receptor isoform a precursor
ERBB2	receptor tyrosine-protein kinase erbB-2 isoform a precursor
ERBB4	receptor tyrosine-protein kinase erbB-4 isoform JM-a/CYT-1 precursor

Afatinib dimaleate 💬

Afatinib

[1] 285 💬

PI3K-Akt signaling pathway 💬

[3] EGFR, ERBB2, ERBB4 💬

Name	Full Name
EGFR	epidermal growth factor receptor isoform a precursor
ERBB2	receptor tyrosine-protein kinase erbB-2 isoform a precursor
ERBB4	receptor tyrosine-protein kinase erbB-4 isoform JM-a/CYT-1 precursor

Neratinib 💬

Neratinib

[1] 34 💬

PI3K-Akt signaling pathway 💬

[3] EGFR, ERBB2, ERBB4 💬

Name	Full Name
EGFR	epidermal growth factor receptor isoform a precursor
ERBB2	receptor tyrosine-protein kinase erbB-2 isoform a precursor
ERBB4	receptor tyrosine-protein kinase erbB-4 isoform JM-a/CYT-1 precursor

Neratinib maleate 💬

Neratinib

[1] 34 💬

PI3K-Akt signaling pathway 💬

[4] EGFR, ERBB2, FLT4, KDR 💬

Name	Full Name
EGFR	epidermal growth factor receptor isoform a precursor
ERBB2	receptor tyrosine-protein kinase erbB-2 isoform a precursor
FLT4	vascular endothelial growth factor receptor 3 isoform 1 precursor
KDR	vascular endothelial growth factor receptor 2 precursor

Tesevatinib 💬

Tesevatinib

[1] 67 💬

Disease ID	Name
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD;

PI3K-Akt signaling pathway 💬

[3] EPHA2, KIT, PDGFRB 💬

Dasatinib 💬

Dasatinib

[3] 13, 51, 85 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;

PI3K-Akt signaling pathway 💬

[3] EPHA2, KIT, PDGFRB 💬

Dasatinib 💬

Dasatinib

[3] 13, 51, 85 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;

PI3K-Akt signaling pathway 💬

[1] EPOR 💬

Epoetin beta 💬

Epoetin beta

[1] 13 💬

PI3K-Akt signaling pathway 💬

[1] EPOR 💬

Epoetin alfa 💬

Erythropoietin

[11] 2 , 6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
18	Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia;
22	Moyamoya disease;Occlusive disease in circle of Willis;
47	Buerger disease;Thromboangiitis obliterans;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
70	Spinal stenosis;Extensive spinal canal stenosis;
95	Autoimmune hepatitis;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;

PI3K-Akt signaling pathway 💬

[1] EPOR 💬

Epoetin epsilon 💬

Erythropoietin

[11] 2 , 6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
18	Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia;
22	Moyamoya disease;Occlusive disease in circle of Willis;
47	Buerger disease;Thromboangiitis obliterans;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
70	Spinal stenosis;Extensive spinal canal stenosis;
95	Autoimmune hepatitis;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;

PI3K-Akt signaling pathway 💬

[1] EPOR 💬

Epoetin theta 💬

Erythropoietin

[11] 2 , 6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
18	Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia;
22	Moyamoya disease;Occlusive disease in circle of Willis;
47	Buerger disease;Thromboangiitis obliterans;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
70	Spinal stenosis;Extensive spinal canal stenosis;
95	Autoimmune hepatitis;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;

PI3K-Akt signaling pathway 💬

[1] EPOR 💬

Epoetin zeta 💬

Erythropoietin

[11] 2 , 6 , 13, 18, 22, 47, 61, 63, 70, 95, 96 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
18	Spinocerebellar degeneration;SCD;Spinocerebellar ataxia;SCA;Machado-Joseph disease;MJD;Dentatorubural pallidoluysian atrophy;Dentatorubropallidoluysian atrophy;DRPLA;Naito-Koyanagi disease;Early-onset ataxia with ocular motor ataxia and hypoalbuminemia;EAOH;Ataxia with vitamin E deficiency;AVED;Aprataxin deficiency;APTX deficiency;Friedreich ataxia;FRDA;Senataxin deficiency;SETX deficiency;Autosomal recessive spastic ataxia of Charlevoix-Saguenay;Spastic ataxia;
22	Moyamoya disease;Occlusive disease in circle of Willis;
47	Buerger disease;Thromboangiitis obliterans;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
70	Spinal stenosis;Extensive spinal canal stenosis;
95	Autoimmune hepatitis;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;

PI3K-Akt signaling pathway 💬

[1] EPOR 💬

Peginesatide 💬

Peginesatide

[1] 283 💬

PI3K-Akt signaling pathway 💬

[1] EPOR 💬

Peginesatide acetate 💬

Peginesatide

[1] 283 💬

PI3K-Akt signaling pathway 💬

[1] FGF19 💬

Aldafermin 💬

Aldafermin

[1] 94 💬

PI3K-Akt signaling pathway 💬

[1] FGF23 💬

Burosumab 💬

Burosumab

[1] 238 💬

Disease ID	Name
238	Vitamin D-resistant rickets;VDRR;Vitamin D-resistant osteomalacia;VDRO;FGF23-related hypophosphatemic disease;FGF23-related hypophosphatemia;Hypophosphatemic rickets/osteomalacia;Vitamin D-resistant rickets;VDRR;Hypophosphatemic rickets;Vitamin D-resistant osteomalacia;VDRO;Hypophosphatemic osteomalacia;Acquired vitamin D-resistant osteomalacia;Acquired VDRO;Tumor-induced osteomalacia;TIO;

PI3K-Akt signaling pathway 💬

[3] FGFR1, FGFR2, FGFR3 💬

Infigratinib 💬

Infigratinib

[1] 276 💬

PI3K-Akt signaling pathway 💬

[3] FGFR1, FGFR2, FGFR3 💬

Infigratinib phosphate 💬

Infigratinib

[1] 276 💬

PI3K-Akt signaling pathway 💬

[10] FGFR1, FGFR2, FGFR3, FGFR4, FLT1, FLT4, KDR, KIT, PDGFRA, PDGFRB 💬

Name	Full Name
FGFR1	fibroblast growth factor receptor 1 isoform 1 precursor
FGFR2	fibroblast growth factor receptor 2 isoform 1 precursor
FGFR3	fibroblast growth factor receptor 3 isoform 1 precursor
FGFR4	fibroblast growth factor receptor 4 isoform 1 precursor
FLT1	vascular endothelial growth factor receptor 1 isoform 1 precursor
FLT4	vascular endothelial growth factor receptor 3 isoform 1 precursor
KDR	vascular endothelial growth factor receptor 2 precursor
KIT	mast/stem cell growth factor receptor Kit isoform 1 precursor
PDGFRA	platelet-derived growth factor receptor alpha isoform 1 precursor
PDGFRB	platelet-derived growth factor receptor beta isoform 1 precursor

Catequentinib 💬

Anlotinib

[1] 85 💬

Disease ID	Name
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;

PI3K-Akt signaling pathway 💬

[8] FGFR1, FGFR2, FGFR3, FLT1, FLT4, KDR, PDGFRA, PDGFRB 💬

Name	Full Name
FGFR1	fibroblast growth factor receptor 1 isoform 1 precursor
FGFR2	fibroblast growth factor receptor 2 isoform 1 precursor
FGFR3	fibroblast growth factor receptor 3 isoform 1 precursor
FLT1	vascular endothelial growth factor receptor 1 isoform 1 precursor
FLT4	vascular endothelial growth factor receptor 3 isoform 1 precursor
KDR	vascular endothelial growth factor receptor 2 precursor
PDGFRA	platelet-derived growth factor receptor alpha isoform 1 precursor
PDGFRB	platelet-derived growth factor receptor beta isoform 1 precursor

Nintedanib esylate 💬

Nintedanib

[7] 51, 84, 85, 89, 227, 228, 331 💬

Disease ID	Name
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
89	Lymphangioleiomyomatosis;LAM;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

PI3K-Akt signaling pathway 💬

[8] FGFR1, FGFR2, FGFR3, FLT1, FLT4, KDR, PDGFRA, PDGFRB 💬

Name	Full Name
FGFR1	fibroblast growth factor receptor 1 isoform 1 precursor
FGFR2	fibroblast growth factor receptor 2 isoform 1 precursor
FGFR3	fibroblast growth factor receptor 3 isoform 1 precursor
FLT1	vascular endothelial growth factor receptor 1 isoform 1 precursor
FLT4	vascular endothelial growth factor receptor 3 isoform 1 precursor
KDR	vascular endothelial growth factor receptor 2 precursor
PDGFRA	platelet-derived growth factor receptor alpha isoform 1 precursor
PDGFRB	platelet-derived growth factor receptor beta isoform 1 precursor

Nintedanib 💬

Nintedanib

[7] 51, 84, 85, 89, 227, 228, 331 💬

Disease ID	Name
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
89	Lymphangioleiomyomatosis;LAM;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

PI3K-Akt signaling pathway 💬

[1] FGFR2 💬

Palifermin 💬

Palifermin

[6] 13, 36, 38, 39, 65, 96 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
36	Epidermolysis bullosa;Kindler syndrome;
38	Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome;
39	Toxic epidermal necrolysis;Toxic epidermal necrosis;TEN;
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;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	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;

PI3K-Akt signaling pathway 💬

[1] FGFR3 💬

Recifercept 💬

Recifercept

[1] 276 💬

PI3K-Akt signaling pathway 💬

[3] FLT1, FLT4, KDR 💬

Name	Full Name
FLT1	vascular endothelial growth factor receptor 1 isoform 1 precursor
FLT4	vascular endothelial growth factor receptor 3 isoform 1 precursor
KDR	vascular endothelial growth factor receptor 2 precursor

Axitinib 💬

Axitinib

[1] 34 💬

PI3K-Akt signaling pathway 💬

[3] FLT1, FLT4, KDR 💬

Name	Full Name
FLT1	vascular endothelial growth factor receptor 1 isoform 1 precursor
FLT4	vascular endothelial growth factor receptor 3 isoform 1 precursor
KDR	vascular endothelial growth factor receptor 2 precursor

Cediranib 💬

Cediranib

[1] 34 💬

PI3K-Akt signaling pathway 💬

[3] FLT1, FLT4, KDR 💬

Name	Full Name
FLT1	vascular endothelial growth factor receptor 1 isoform 1 precursor
FLT4	vascular endothelial growth factor receptor 3 isoform 1 precursor
KDR	vascular endothelial growth factor receptor 2 precursor

Cediranib maleate 💬

Cediranib

[1] 34 💬

PI3K-Akt signaling pathway 💬

[6] FLT1, FLT4, KDR, KIT, PDGFRA, PDGFRB 💬

Name	Full Name
FLT1	vascular endothelial growth factor receptor 1 isoform 1 precursor
FLT4	vascular endothelial growth factor receptor 3 isoform 1 precursor
KDR	vascular endothelial growth factor receptor 2 precursor
KIT	mast/stem cell growth factor receptor Kit isoform 1 precursor
PDGFRA	platelet-derived growth factor receptor alpha isoform 1 precursor
PDGFRB	platelet-derived growth factor receptor beta isoform 1 precursor

Pazopanib hydrochloride 💬

Pazopanib

[1] 227 💬

PI3K-Akt signaling pathway 💬

[7] FLT3, FLT4, KDR, KIT, PDGFRB, RAF1, RET 💬

Name	Full Name
FLT3	receptor-type tyrosine-protein kinase FLT3 precursor
FLT4	vascular endothelial growth factor receptor 3 isoform 1 precursor
KDR	vascular endothelial growth factor receptor 2 precursor
KIT	mast/stem cell growth factor receptor Kit isoform 1 precursor
PDGFRB	platelet-derived growth factor receptor beta isoform 1 precursor
RAF1	RAF proto-oncogene serine/threonine-protein kinase isoform b
RET	proto-oncogene tyrosine-protein kinase receptor Ret isoform a precursor

Sorafenib tosylate 💬

Sorafenib

[2] 34, 86 💬

PI3K-Akt signaling pathway 💬

[7] FLT3, FLT4, KDR, KIT, PDGFRB, RAF1, RET 💬

Name	Full Name
FLT3	receptor-type tyrosine-protein kinase FLT3 precursor
FLT4	vascular endothelial growth factor receptor 3 isoform 1 precursor
KDR	vascular endothelial growth factor receptor 2 precursor
KIT	mast/stem cell growth factor receptor Kit isoform 1 precursor
PDGFRB	platelet-derived growth factor receptor beta isoform 1 precursor
RAF1	RAF proto-oncogene serine/threonine-protein kinase isoform b
RET	proto-oncogene tyrosine-protein kinase receptor Ret isoform a precursor

Sorafenib 💬

Sorafenib

[2] 34, 86 💬

PI3K-Akt signaling pathway 💬

[2] FLT3, JAK2 💬

Pacritinib 💬

Pacritinib

[1] 331 💬

PI3K-Akt signaling pathway 💬

[1] GHR 💬

Lonapegsomatropin 💬

Lonapegsomatropin

[1] 276 💬

PI3K-Akt signaling pathway 💬

[1] GHR 💬

Pegvisomant 💬

Pegvisomant

[2] 77, 265 💬

PI3K-Akt signaling pathway 💬

[1] GHR 💬

Somapacitan 💬

Somapacitan

[1] 195 💬

PI3K-Akt signaling pathway 💬

[1] GHR 💬

Somatropin 💬

Somatotropin

[3] 3 , 65, 236 💬

Disease ID	Name
3	Spinal muscular atrophy;SMA;Myelopathic muscular atrophy;Werdnig-Hoffman disease;Dubowitz disease;Kugelberg-Welander disease;Dubowitz syndrome;
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;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	Pseudohypoparathyroidism;PHP;

PI3K-Akt signaling pathway 💬

[2] GHR, IGF1R 💬

Mecasermin 💬

Mecasermin

[4] 96, 168, 265, 299 💬

Disease ID	Name
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
168	Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS;
265	Lipodystrophy;
299	Cystic fibrosis;CF;

PI3K-Akt signaling pathway 💬

[2] GHR, IGF1R 💬

Mecasermin rinfabate 💬

Mecasermin

[4] 96, 168, 265, 299 💬

Disease ID	Name
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
168	Ehlers-Danlos syndrome;EDS;Classic EDS;Classical EDS;cEDS;Classical-like Ehlers-Danlos syndrome;Classical-like EDS;clEDS;Cardiac-valvular Ehlers-Danlos syndrome;cvEDS;Vascular Ehlers-Danlos syndrome;Vascular EDS;vEDS;Hypermobile Ehlers-Danlos syndrome;Hypermobile EDS;hEDS;Arthrochalasia Ehlers-Danlos syndrome;Arthrochalasia EDS;aEDS;Dermatosparaxis Ehlers-Danlos syndrome;Dermatosparaxis EDS;dEDS;Kyphoscoliosis Ehlers-Danlos syndrome;Kyphoscoliosis EDS;kEDS;Brittle cornea syndrome;BCS;Spondylodysplastic Ehlers-Danlos Syndrome;spEDS;Musculocontractural Ehlers-Danlos Syndrome;mEDS;D4ST1-deficient Ehlers-Danlos syndrome;Dermatan 4-0-sulfotransferase 1-deficient EDS;D4ST1-deficient EDS;DDEDS;Myopathic Ehlers-Danlos Syndrome;mEDS;Periodontal Ehlers-Danlos Syndrome;pEDS;
265	Lipodystrophy;
299	Cystic fibrosis;CF;

PI3K-Akt signaling pathway 💬

[13] IFNA1, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA2, IFNA21, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8 💬

Name	Full Name
IFNA1	interferon alpha-1 precursor
IFNA10	interferon alpha-10 precursor
IFNA13	interferon alpha-13 precursor
IFNA14	interferon alpha-14 precursor
IFNA16	interferon alpha-16 precursor
IFNA17	interferon alpha-17 precursor
IFNA2	interferon alpha-2 precursor
IFNA21	interferon alpha-21 precursor
IFNA4	interferon alpha-4 precursor
IFNA5	interferon alpha-5 precursor
IFNA6	interferon alpha-6 precursor
IFNA7	interferon alpha-7 precursor
IFNA8	interferon alpha-8 precursor

Rontalizumab 💬

Rontalizumab

[1] 49 💬

PI3K-Akt signaling pathway 💬

[13] IFNA1, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA2, IFNA21, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8 💬

Name	Full Name
IFNA1	interferon alpha-1 precursor
IFNA10	interferon alpha-10 precursor
IFNA13	interferon alpha-13 precursor
IFNA14	interferon alpha-14 precursor
IFNA16	interferon alpha-16 precursor
IFNA17	interferon alpha-17 precursor
IFNA2	interferon alpha-2 precursor
IFNA21	interferon alpha-21 precursor
IFNA4	interferon alpha-4 precursor
IFNA5	interferon alpha-5 precursor
IFNA6	interferon alpha-6 precursor
IFNA7	interferon alpha-7 precursor
IFNA8	interferon alpha-8 precursor

Sifalimumab 💬

Sifalimumab

[1] 49 💬

PI3K-Akt signaling pathway 💬

[2] IFNAR1, IFNAR2 💬

Anifrolumab 💬

Anifrolumab

[6] 46, 48, 49, 50, 51, 53 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
48	Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;

PI3K-Akt signaling pathway 💬

[2] IFNAR1, IFNAR2 💬

Interferon beta 💬

Human interferon beta

[2] 13, 26 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;

PI3K-Akt signaling pathway 💬

[2] IFNAR1, IFNAR2 💬

Interferon alfa 💬

Interferon alfa

[5] 25, 26, 28, 56, 96 💬

Disease ID	Name
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
28	Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis;
56	Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;

PI3K-Akt signaling pathway 💬

[2] IFNAR1, IFNAR2 💬

Interferon alfa-2a 💬

Interferon alfa-2a

[1] 56 💬

PI3K-Akt signaling pathway 💬

[2] IFNAR1, IFNAR2 💬

Interferon alfa-2b 💬

Interferon alfa-2b

[2] 25, 26 💬

PI3K-Akt signaling pathway 💬

[2] IFNAR1, IFNAR2 💬

Interferon beta-1a 💬

Interferon beta-1a

[5] 13, 14, 26, 96, 97 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
14	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating polyradiculoneuropathy;CIDP;Multifocal motor neuropathy;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;

PI3K-Akt signaling pathway 💬

[2] IFNAR1, IFNAR2 💬

Interferon beta-1b 💬

Interferon beta-1b

[1] 13 💬

PI3K-Akt signaling pathway 💬

[2] IFNAR1, IFNAR2 💬

Peginterferon alfa-2a 💬

Peginterferon alfa-2a

[1] 222 💬

Disease ID	Name
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;

PI3K-Akt signaling pathway 💬

[2] IFNAR1, IFNAR2 💬

Peginterferon beta-1a 💬

Peginterferon beta-1a

[1] 13 💬

PI3K-Akt signaling pathway 💬

[1] IFNB1 💬

Dazukibart 💬

Dazukibart

[1] 50 💬

PI3K-Akt signaling pathway 💬

[1] IGF1R 💬

Linsitinib 💬

Linsitinib

[1] 232 💬

PI3K-Akt signaling pathway 💬

[1] IGF1R 💬

Teprotumumab 💬

Teprotumumab

[1] 49 💬

PI3K-Akt signaling pathway 💬

[1] IGF2 💬

Tralesinidase alfa 💬

Tralesinidase alfa

[1] 19 💬

Disease ID

Name

100

PI3K-Akt signaling pathway 💬

[1] IL2RA 💬

Basiliximab 💬

Basiliximab

[5] 2 , 50, 97, 222, 228 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;

101

PI3K-Akt signaling pathway 💬

[1] IL2RA 💬

Daclizumab 💬

Daclizumab

[10] 13, 26, 56, 60, 63, 65, 97, 107, 283, 284 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I;HAM;
56	Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease;
60	Aplastic anemia;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
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;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;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;

102

PI3K-Akt signaling pathway 💬

[3] IL2RA, IL2RB, IL2RG 💬

Aldesleukin 💬

Aldesleukin

[5] 2 , 49, 65, 96, 97 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
49	Systemic lupus erythematosus;SLE;
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;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	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;

103

PI3K-Akt signaling pathway 💬

[3] IL2RA, IL2RB, IL2RG 💬

Celmoleukin 💬

Human interleukin-2

[1] 35 💬

104

PI3K-Akt signaling pathway 💬

[1] IL4R 💬

Dupilumab 💬

Dupilumab

[8] 51, 97, 98, 160, 162, 222, 300, 306 💬

Disease ID	Name
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
98	Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE;
160	Congenital ichthyosis;Keratinopathic ichthyosis;Epidermolytic ichthyosis;Superficial epidermolytic ichthyosis;Harlequin ichthyosis;Autosomal recessive congenital ichthyosis;Congenital Ichthyosiform Erythroderma;Foliate ichthyosis;Ichthyosis syndrome;Netherton syndrome;Sjogren-Larsson syndrome;Sjögren-Larsson syndrome;Keratitis-ichtyosis-deafness syndrome;KID syndrome;Dorfman-Chanarin syndrome;Neutral lipid storage disease;NLSD;Multiple sulfatase deficiency;Austin disease;Austin syndrome;Recessive X-linked ichthyosis;RXLI;X-linked recessive ichthyosis;Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature;IBID;Trichothiodystrophy;Follicular ichthyosis;Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome;CHILD syndrome;Conradi-Hunermann-Happle syndrome;Conradi-Hünermann-Happle syndrome;CHHS;
162	Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa;
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
300	IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
306	Eosinophilic sinusitis;

105

PI3K-Akt signaling pathway 💬

[1] IL6 💬

Olokizumab 💬

Olokizumab

[2] 46, 96 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;

106

PI3K-Akt signaling pathway 💬

[1] IL6 💬

Pirfenidone 💬

Pirfenidone

[12] 13, 34, 40, 46, 50, 51, 58, 84, 85, 164, 222, 228 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
58	Hypertrophic cardiomyopathy;HCM;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
164	Oculocutaneous albinism;Hermansky-Pudlak syndrome;HPS;Chediak-Higashi syndrome;Chédiak-Higashi syndrome;CHS;Griscelli syndrome;
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;

107

PI3K-Akt signaling pathway 💬

[1] IL6 💬

Pomalidomide 💬

Pomalidomide

[6] 28, 34, 51, 85, 227, 331 💬

Disease ID	Name
28	Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

108

PI3K-Akt signaling pathway 💬

[1] IL6 💬

Siltuximab 💬

Siltuximab

[2] 28, 331 💬

Disease ID

Name

331

Idiopathic multicentric castleman disease;iMCD;Castleman disease;

109

PI3K-Akt signaling pathway 💬

[1] IL6 💬

Sirukumab 💬

Sirukumab

[2] 41, 46 💬

110

PI3K-Akt signaling pathway 💬

[1] IL6R 💬

Sarilumab 💬

Sarilumab

[5] 41, 46, 84, 107, 271 💬

Disease ID	Name
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
84	Sarcoidosis;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;

111

PI3K-Akt signaling pathway 💬

[1] IL6R 💬

Satralizumab 💬

Satralizumab

[4] 11, 13, 86, 113 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
86	Pulmonary arterial hypertension;PAH;
113	Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy;

112

PI3K-Akt signaling pathway 💬

[1] IL6R 💬

Tocilizumab 💬

Tocilizumab

[26] 2 , 11, 13, 40, 41, 42, 43, 44, 46, 49, 50, 51, 53, 54, 55, 56, 65, 86, 107, 149, 153, 223, 266, 271, 298, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;Glomerulonephritis;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease;
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;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	Pulmonary arterial hypertension;PAH;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
149	Hemiconvulsion hemiplegia epilepsy syndrome;One side convulsions;Hemiplegia;Epilepsy syndrome;
153	Acute encephalitis with refractory repetitive partial seizures;AERRPS;Refractory frequent partial seizures intussusception acute encephalitis;Febrile infection related epilepsy syndrome;FIRES;New onset refractory status epilepsy syndrome;NORSE syndrome;
223	Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
266	Familial mediterranean fever;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
298	Hereditary pancreatitis;Chronic pancreatitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

113

PI3K-Akt signaling pathway 💬

[1] IL7R 💬

Lusvertikimab 💬

Lusvertikimab

[1] 97 💬

114

PI3K-Akt signaling pathway 💬

[1] INSR 💬

Insulin detemir 💬

Insulin detemir

[1] 299 💬

115

PI3K-Akt signaling pathway 💬

[1] INSR 💬

Insulin glargine 💬

Insulin glargine

[2] 35, 299 💬

116

PI3K-Akt signaling pathway 💬

[1] INSR 💬

Insulin lispro 💬

Insulin lispro

[1] 53 💬

117

PI3K-Akt signaling pathway 💬

[1] ITGA4 💬

Firategrast 💬

Firategrast

[1] 13 💬

118

PI3K-Akt signaling pathway 💬

[1] ITGA4 💬

Natalizumab 💬

Natalizumab

[5] 13, 15, 25, 46, 96 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;

119

PI3K-Akt signaling pathway 💬

[3] ITGA4, ITGB1, ITGB7 💬

Carotegrast methyl 💬

Carotegrast methyl

[1] 97 💬

120

PI3K-Akt signaling pathway 💬

[2] ITGA4, ITGB7 💬

Abrilumab 💬

Abrilumab

[2] 96, 97 💬

121

PI3K-Akt signaling pathway 💬

[2] ITGA4, ITGB7 💬

Vedolizumab 💬

Vedolizumab

[3] 94, 96, 97 💬

122

PI3K-Akt signaling pathway 💬

[3] ITGA5, ITGB1, ITGB6 💬

Bexotegrast 💬

Bexotegrast

[1] 94 💬

123

PI3K-Akt signaling pathway 💬

[1] ITGB7 💬

Etrolizumab 💬

Etrolizumab

[2] 96, 97 💬

124

PI3K-Akt signaling pathway 💬

[1] JAK1 💬

Abrocitinib 💬

Abrocitinib

[3] 39, 84, 162 💬

125

PI3K-Akt signaling pathway 💬

[1] JAK1 💬

Brepocitinib 💬

Brepocitinib

[5] 49, 50, 84, 96, 97 💬

Disease ID	Name
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
84	Sarcoidosis;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;

126

PI3K-Akt signaling pathway 💬

[1] JAK1 💬

Filgotinib 💬

Filgotinib

[10] 46, 53, 56, 96, 97, 107, 222, 271, 300, 331 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
56	Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
300	IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

127

PI3K-Akt signaling pathway 💬

[1] JAK1 💬

Golidocitinib 💬

Golidocitinib

[1] 60 💬

128

PI3K-Akt signaling pathway 💬

[1] JAK1 💬

Itacitinib 💬

Itacitinib

[4] 46, 51, 97, 228 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;

129

PI3K-Akt signaling pathway 💬

[1] JAK1 💬

Itacitinib adipate 💬

Itacitinib

[4] 46, 51, 97, 228 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;

130

PI3K-Akt signaling pathway 💬

[1] JAK1 💬

Ivarmacitinib 💬

Ivarmacitinib

[6] 40, 46, 51, 56, 271, 300 💬

Disease ID	Name
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
56	Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
300	IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;

131

PI3K-Akt signaling pathway 💬

[1] JAK1 💬

Ivarmacitinib sulfate 💬

Ivarmacitinib

[6] 40, 46, 51, 56, 271, 300 💬

Disease ID	Name
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
56	Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
300	IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;

132

PI3K-Akt signaling pathway 💬

[1] JAK1 💬

Upadacitinib 💬

Upadacitinib

[12] 40, 41, 46, 49, 53, 55, 63, 96, 97, 98, 107, 271 💬

Disease ID	Name
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
98	Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;

133

PI3K-Akt signaling pathway 💬

[1] JAK1 💬

Upadacitinib tartrate 💬

Upadacitinib

[12] 40, 41, 46, 49, 53, 55, 63, 96, 97, 98, 107, 271 💬

Disease ID	Name
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
98	Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;

134

PI3K-Akt signaling pathway 💬

[1] JAK1 💬

Upadacitinib hydrate 💬

Upadacitinib

[12] 40, 41, 46, 49, 53, 55, 63, 96, 97, 98, 107, 271 💬

Disease ID	Name
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
98	Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;

135

PI3K-Akt signaling pathway 💬

[2] JAK1, JAK2 💬

Baricitinib 💬

Baricitinib

[24] 2 , 13, 40, 41, 46, 49, 50, 51, 53, 54, 56, 63, 65, 84, 93, 107, 135, 162, 265, 268, 269, 300, 325, 345 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
54	Adult still disease;Adult-onset Still's disease;
56	Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
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;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;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
135	Aicardi syndrome;
162	Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa;
265	Lipodystrophy;
268	Nakajo-Nishimura syndrome;Autoinflammation, lipodystrophy, and dermatosis syndrome;Autoinflammation lipodystrophy and dermatosis syndrome;CANDLE syndrome;JMP syndrome;Nakajo syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
300	IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
325	Hereditary autoinflammatory syndrome;Inherited autoinflammatory disease;NLRC4 abnormality;Adenosine deaminase 2 deficiency;ADA2 deficiency;DADA2;Aicardi-Goutieres syndrome;AGS;A20 haploinsufficiency;HA20;
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy;STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy;STING-associated vasculopathy with onset in infancy;SAVI;

136

PI3K-Akt signaling pathway 💬

[2] JAK1, JAK2 💬

Ruxolitinib 💬

Ruxolitinib

[7] 13, 15, 50, 60, 65, 228, 331 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
60	Aplastic anemia;
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;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	Bronchiolitis obliterans;Obliterating bronchiolitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

137

PI3K-Akt signaling pathway 💬

[2] JAK1, JAK2 💬

Ruxolitinib phosphate 💬

Ruxolitinib

[7] 13, 15, 50, 60, 65, 228, 331 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
60	Aplastic anemia;
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;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	Bronchiolitis obliterans;Obliterating bronchiolitis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

138

PI3K-Akt signaling pathway 💬

[3] JAK1, JAK2, JAK3 💬

Delgocitinib 💬

Delgocitinib

[1] 50 💬

139

PI3K-Akt signaling pathway 💬

[3] JAK1, JAK2, JAK3 💬

Filgotinib maleate 💬

Filgotinib

[10] 46, 53, 56, 96, 97, 107, 222, 271, 300, 331 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
56	Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
300	IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

140

PI3K-Akt signaling pathway 💬

[3] JAK1, JAK2, JAK3 💬

Peficitinib 💬

Peficitinib

[1] 46 💬

141

PI3K-Akt signaling pathway 💬

[3] JAK1, JAK2, JAK3 💬

Tofacitinib citrate 💬

Tofacitinib

[23] 2 , 11, 35, 38, 39, 40, 44, 46, 49, 50, 51, 53, 56, 65, 66, 84, 96, 97, 107, 110, 162, 271, 300 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
11	Myasthenia gravis;MG;
35	Pemphigus;
38	Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome;
39	Toxic epidermal necrolysis;Toxic epidermal necrosis;TEN;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
56	Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease;
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;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	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis;
84	Sarcoidosis;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
110	Blau syndrome;Early-onset sarcoidosis;Systemic granulomatous diseases;Systemic inflammatory granulomatous disease;Juvenile onset sarcoidosis;Early-onset childhood sarcoidosis;Childhood sarcoidosis;Early onset sarcoidosis;EOS;
162	Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
300	IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;

142

PI3K-Akt signaling pathway 💬

[3] JAK1, JAK2, JAK3 💬

Tofacitinib 💬

Tofacitinib

[23] 2 , 11, 35, 38, 39, 40, 44, 46, 49, 50, 51, 53, 56, 65, 66, 84, 96, 97, 107, 110, 162, 271, 300 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
11	Myasthenia gravis;MG;
35	Pemphigus;
38	Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome;
39	Toxic epidermal necrolysis;Toxic epidermal necrosis;TEN;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
56	Behcet disease;Behçet disease;BD;Behçet syndrome;Silk Road disease;
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;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	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis;
84	Sarcoidosis;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
107	Juvenile idiopathic arthritis;JIA;Systemic juvenile idiopathic arthritis;Systemic-onset juvenile idiopathic arthritis;sJIA;Joint-type juvenile idiopathic arthritis;Joint-type juvenile idiopathic arthritis;Joint-type JIA;
110	Blau syndrome;Early-onset sarcoidosis;Systemic granulomatous diseases;Systemic inflammatory granulomatous disease;Juvenile onset sarcoidosis;Early-onset childhood sarcoidosis;Childhood sarcoidosis;Early onset sarcoidosis;EOS;
162	Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
300	IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;

143

PI3K-Akt signaling pathway 💬

[4] JAK1, JAK2, JAK3, SYK 💬

Gusacitinib 💬

Gusacitinib

[1] 49 💬

144

PI3K-Akt signaling pathway 💬

[1] JAK3 💬

Ritlecitinib tosylate 💬

Ritlecitinib

[3] 46, 96, 97 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;

145

PI3K-Akt signaling pathway 💬

[2] KDR, MET 💬

Cabozantinib 💬

Cabozantinib

[9] 13, 34, 46, 49, 50, 51, 53, 96, 97 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;

146

PI3K-Akt signaling pathway 💬

[2] KDR, MET 💬

Cabozantinib s-malate 💬

Cabozantinib

[9] 13, 34, 46, 49, 50, 51, 53, 96, 97 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;Idiopathic inflammatory myositis;IIM;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;

147

PI3K-Akt signaling pathway 💬

[1] KIT 💬

Barzolvolimab 💬

Barzolvolimab

[1] 98 💬

Disease ID	Name
98	Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE;

148

PI3K-Akt signaling pathway 💬

[1] KIT 💬

Masitinib 💬

Masitinib

[6] 2 , 5 , 6 , 13, 46, 96 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;

149

PI3K-Akt signaling pathway 💬

[2] KIT, PDGFRA 💬

Imatinib mesylate 💬

Imatinib

[12] 13, 28, 34, 35, 46, 51, 85, 86, 87, 88, 89, 162 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
28	Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
86	Pulmonary arterial hypertension;PAH;
87	Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH;
88	Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism;
89	Lymphangioleiomyomatosis;LAM;
162	Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa;

150

PI3K-Akt signaling pathway 💬

[2] KIT, PDGFRA 💬

Imatinib 💬

Imatinib

[12] 13, 28, 34, 35, 46, 51, 85, 86, 87, 88, 89, 162 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
28	Systemic amyloidosis;Immunoglobulin light chain amyloidosis;Amyloid light-chain amyloidosis;AL amyloidosis;Immunoglobulin light chain amyloidosis;Immunoglobulin-related amyloidosis;Amyloid heavy-chain amyloidosis;Amyloid heavy-chain amyloidosis;AH amyloidosis;Systemic wild-type transthyretin amyloidosis;Senile systemic amyloidosis;SSA;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary transthyretin amyloidosis;Familial amyloidosis;Familial amyloid polyneuropathy;FAP;Transthyretin amyloid cardiomyopathy;ATTR-CM;Hereditary systemic amyloidosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
86	Pulmonary arterial hypertension;PAH;
87	Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH;
88	Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism;
89	Lymphangioleiomyomatosis;LAM;
162	Pemphigoid;Bullous pemphigoid;BP;Epidermolysis bullosa acquisita;Acquired epidermolysis bullosa;

151

PI3K-Akt signaling pathway 💬

[3] KIT, PDGFRA, PDGFRB 💬

Name	Full Name
KIT	mast/stem cell growth factor receptor Kit isoform 1 precursor
PDGFRA	platelet-derived growth factor receptor alpha isoform 1 precursor
PDGFRB	platelet-derived growth factor receptor beta isoform 1 precursor

Nilotinib 💬

Nilotinib

[5] 6 , 8 , 34, 51, 86 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
8	Huntington disease;Huntington chorea;Huntington syndrome;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
86	Pulmonary arterial hypertension;PAH;

152

PI3K-Akt signaling pathway 💬

[1] LPAR1 💬

Admilparant 💬

BMS-986278

[1] 85 💬

Disease ID	Name
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;

153

PI3K-Akt signaling pathway 💬

[2] MAP2K1, MAP2K2 💬

Binimetinib 💬

Binimetinib

[1] 34 💬

154

PI3K-Akt signaling pathway 💬

[2] MAP2K1, MAP2K2 💬

Mirdametinib 💬

Mirdametinib

[4] 34, 278, 279, 280 💬

Disease ID	Name
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma;
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;

155

PI3K-Akt signaling pathway 💬

[2] MAP2K1, MAP2K2 💬

Selumetinib 💬

Selumetinib

[1] 34 💬

156

PI3K-Akt signaling pathway 💬

[2] MAP2K1, MAP2K2 💬

Selumetinib sulfate 💬

Selumetinib

[1] 34 💬

157

PI3K-Akt signaling pathway 💬

[2] MAP2K1, MAP2K2 💬

Trametinib 💬

Trametinib

[6] 2 , 34, 58, 195, 279, 280 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
58	Hypertrophic cardiomyopathy;HCM;
195	Noonan syndrome;
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;

158

PI3K-Akt signaling pathway 💬

[2] MAP2K1, MAP2K2 💬

Trametinib dimethyl sulfoxide 💬

Trametinib

[6] 2 , 34, 58, 195, 279, 280 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
58	Hypertrophic cardiomyopathy;HCM;
195	Noonan syndrome;
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;

159

PI3K-Akt signaling pathway 💬

[1] MTOR 💬

Everolimus 💬

Everolimus

[12] 34, 67, 89, 96, 137, 157, 158, 228, 277, 278, 279, 280 💬

Disease ID	Name
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;CD;Terminal ileitis;Inflammatory bowel disease;IBD;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;TSC;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma;
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;

160

PI3K-Akt signaling pathway 💬

[1] MTOR 💬

Sirolimus 💬

Sirolimus

[46] 6 , 13, 15, 17, 19, 21, 34, 35, 36, 46, 48, 49, 51, 54, 57, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 97, 98, 111, 127, 137, 157, 158, 192, 222, 223, 227, 277, 278, 279, 280, 281, 283, 285, 300, 331 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA;Olivopontocerebellar atrophy;OPCA;Striatonigral degeneration;Shy-Drager syndrome;
19	Lysosomal storage disease;Lysosomal disease;Gaucher disease;Niemann-Pick disease type A/B;Niemann-Pick type A;NPD-A;NPA;Niemann-Pick type B;NPD-B;NPB;Acid sphingomyelinase deficiency;ASMD;Niemann-Pick disease type C;Niemann-Pick type C;NPD-C;NPC;GM1-gangliosidosis;GM1-gangliosidoses;GM2-gangliosidosis;GM2-gangliosidoses;Tay-Sachs disease;Sandhoff disease;Krabbe disease;Krabbe syndrome;Metachromatic leukodystrophy;MLD;Multiple-sulfatase deficiency;Farber disease;Mucopolysaccharidosis type I;Mucopolysaccharidosis I;MPS I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome;Mucopolysaccharidosis type II;Mucopolysaccharidosis II;MPS II;Hunter syndrome;Mucopolysaccharidosis type III;Mucopolysaccharidosis III;MPS III;Sanfilippo syndrome;Mucopolysaccharidosis type IV;Mucopolysaccharidosis IV;MPS IV;MPS IVA;Morquio syndrome;Morquio A syndrome;Mucopolysaccharidosis type VI;Mucopolysaccharidosis VI;MPS VI;Maroteaux-Lamy syndrome;Mucopolysaccharidosis type VII;Mucopolysaccharidosis VII;MPS VII;Sly syndrome;Mucopolysaccharidosis type IX;Mucopolysaccharidosis IX;MPS IX;Hyaluronidase deficiency;Sialidosis;Galactosialidosis;Mucolipidosis II;Mucolipidosis type II;I-cell disease;Mucolipidosis III;Mucolipidosis type III;Alpha-Mannosidosis;Alpha-Mannosidase Deficiency;Beta-Mannosidosis;Beta-Mannosidase Deficiency;Fucosidosis;Aspartylglucosaminuria;Schindler disease;Schindler syndrome;Kanzaki disease;Kanzaki syndrome;Pompe disease;Pompe syndrome;Acid lipase deficiency;Wolman disease;Cholesterol ester storage disease;Danon disease;Danon syndrome;Free sialic acid storage disease;Infantile sialic acid storage disease;ISSD;Salla disease;Salla syndrome;Ceroid lipofuscinosis;Fabry disease;Cystinosis;
21	Mitochondrial disease;Choronic progressive external ophthalmolegia;CPEO;Leigh syndrome;Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode;MELAS;Myoclonus epilepsy associated with ragged-red fibers;MERRF;Mitochondrial respiratory chain disorders;Pearson syndrome;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
35	Pemphigus;
36	Epidermolysis bullosa;Kindler syndrome;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
48	Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;Antiphospholipid syndrome;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
54	Adult still disease;Adult-onset Still's disease;
57	Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
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;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	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
98	Eosinophilic gastro-intestinal disorder;Eosinophilic gastrointestinal disorder;EGID;Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Neonatal food-protein induced enterocolitis syndrome;Neonatal food-protein induced enterocolitis;N-FPIES;Eosinophilic esophagitis;EoE;Eosinophilic gastroenteritis;EGE;
111	Congenital myopathy;Nemaline myopathy;Central core disease;Minicore myopathy;Multi-minicore myopathy;Multi-minicore disease;Myotubular myopathy;X-linked myotubular myopathy;XLMTM;Centronuclear myopathy;CNM;Congenital fiber-type disproportion myopathy;Congenital fiber-type disproportion;
127	Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;TSC;
192	Cockayne syndrome;CS;
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
223	Primary membranoproliferative glomerulonephritis;Primary MPGN;Primary membranoproliferative glomerulonephritis type I;Primary MPGN I;Primary membranoproliferative glomerulonephritis type III;Primary MPGN III;Membranoproliferative glomerulonephritis;Glomerulonephritis;C3 glomerulonephritis;C3 glomerulopathy;IC-MPGN;MPGN;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;Lymphangioma;
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;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trénaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;Klippel-Trenaunay syndrome;Klippel-Trenauney syndrome;KTS;Parkes Weber syndrome;PWS;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
285	Fanconi anemia;
300	IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

161

PI3K-Akt signaling pathway 💬

[1] MTOR 💬

Temsirolimus 💬

Temsirolimus

[4] 13, 34, 89, 331 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
89	Lymphangioleiomyomatosis;LAM;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

162

PI3K-Akt signaling pathway 💬

[1] NFKB1 💬

Iguratimod 💬

Iguratimod

[7] 46, 49, 51, 53, 63, 271, 300 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
300	IgG4-related disease;Immunoglobulin G4-related disease;IgG4-related disease;Autoimmune pancreatitis;IgG4-related sclerosing cholangitis;IgG4-related lacrimal gland, orbital, and salivary gland lesions;IgG4-related kidney disease;

163

PI3K-Akt signaling pathway 💬

[1] NGF 💬

Tanezumab 💬

Tanezumab

[2] 226, 298 💬

164

PI3K-Akt signaling pathway 💬

[1] NGFR 💬

Cenegermin 💬

Cenegermin

[1] 53 💬

165

PI3K-Akt signaling pathway 💬

[1] OSMR 💬

Vixarelimab 💬

Vixarelimab

[3] 51, 85, 97 💬

Disease ID	Name
51	Scleroderma;Systemic sclerosis;SSc;Diffuse cutaneous SSc;dcSSc;Limited cutaneous SSc;lcSSc;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;

166

PI3K-Akt signaling pathway 💬

[2] PDGFRA, PDGFRB 💬

Seralutinib 💬

Seralutinib

[1] 86 💬

167

PI3K-Akt signaling pathway 💬

[3] PGF, VEGFA, VEGFB 💬

Aflibercept 💬

Aflibercept

[2] 90, 166 💬

168

PI3K-Akt signaling pathway 💬

[1] PIK3CA 💬

Alpelisib 💬

Alpelisib

[4] 138, 278, 279, 280 💬

Disease ID	Name
138	Nerve cell migration disorder;Lissencephaly;Neuronal migration defect;Neuronal migration disorder;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;Lymphangioma;
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;

169

PI3K-Akt signaling pathway 💬

[3] PIK3CA, PIK3CB, PIK3CD 💬

Name	Full Name
PIK3CA	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform
PIK3CB	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform isoform 1
PIK3CD	phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform isoform 1

Leniolisib 💬

Leniolisib

[2] 53, 65 💬

Disease ID

Name

Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;

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;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;

170

PI3K-Akt signaling pathway 💬

[2] PIK3CA, PIK3CD 💬

Copanlisib 💬

Copanlisib

[1] 121 💬

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;Neuroferritinopathy;FTL;NBIA3;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;KRS;Woodhouse-Sakati syndrome;DDB1 and CLUL4 associated factor 17;DCAF17;Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome;

171

PI3K-Akt signaling pathway 💬

[1] PIK3CD 💬

Leniolisib phosphate 💬

Leniolisib

[2] 53, 65 💬

Disease ID

Name

Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;Autoimmune exocrinopathy;

172

PI3K-Akt signaling pathway 💬

[1] PIK3CD 💬

Parsaclisib 💬

Parsaclisib

[3] 35, 53, 61 💬

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;

173

PI3K-Akt signaling pathway 💬

[2] PRKAA1, PRKAA2 💬

Metformin hydrochloride 💬

Name	Other Names
Metformin hydrochloride	Glucophage GLUMETZA RIOMET METFORMIN METFORMIN ER 500 MG METFORMIN HCL METFORMIN HYDROCHLORIDE EXTENDED RELEASE METFORMIN HYDROCHLORIDE EXTENDED-RELEASE 500MG METFORMIN HYDROCHLORIDE ORAL SOLUTION

Metformin

[31] 2 , 6 , 8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
8	Huntington disease;Huntington chorea;Huntington syndrome;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
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;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	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD;
74	Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia;
75	Cushing disease;Cushing syndrome;
77	Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
113	Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy;
127	Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
158	Tuberous sclerosis;Tuberous sclerosis complex;TSC;
206	Fragile X syndrome;
218	Alport syndrome;Glomerulonephritis;
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
298	Hereditary pancreatitis;Chronic pancreatitis;
299	Cystic fibrosis;CF;
301	Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;

174

PI3K-Akt signaling pathway 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

Metformin

[31] 2 , 6 , 8 , 13, 46, 49, 60, 65, 66, 67, 74, 75, 77, 81, 84, 85, 86, 97, 113, 127, 158, 206, 218, 222, 225, 233, 265, 285, 298, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
8	Huntington disease;Huntington chorea;Huntington syndrome;
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
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;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	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;Autosomal dominant polycystic kidney disease;Autosomal dominant PKD;ADPKD;Autosomal recessive polycystic kidney disease;Autosomal recessive PKD;ARPKD;
74	Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia;
75	Cushing disease;Cushing syndrome;
77	Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;Aldosterone synthase deficiency;Congenital Lipoid Adrenal Hyperplasia;3β-Hydroxysteroid Dehydrogenase Deficiency;21-Hydroxylase deficiency;21-OHD;11β-Hydroxylase deficiency;17α-Hydroxylase deficiency;P450 oxidoreductase deficiency;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;UC;Inflammatory bowel disease;IBD;
113	Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy;
127	Frontotemporal lobar degeneration;Frontotemporal dementia, behavioral abnormal type;Frontotemporal dementia;Semantic dementia;
158	Tuberous sclerosis;Tuberous sclerosis complex;TSC;
206	Fragile X syndrome;
218	Alport syndrome;Glomerulonephritis;
222	Primary nephrotic syndrome;Nephrotic syndrome;Glomerulonephritis;Minimal change nephrotic syndrome;MCNS;Membranous nephropathy;Focal segmental glomerulosclerosis;FSGS;Crescentic glomerulonephritis;CGN;CrGN;Endocapillary proliferative glomerulonephritis;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
298	Hereditary pancreatitis;Chronic pancreatitis;
299	Cystic fibrosis;CF;
301	Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;

175

PI3K-Akt signaling pathway 💬

[1] PRL 💬

Bromocriptine mesylate 💬

Bromocriptine

[3] 6 , 57, 74 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
57	Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM;
74	Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia;

176

PI3K-Akt signaling pathway 💬

[1] PRL 💬

Bromocriptine 💬

Bromocriptine

[3] 6 , 57, 74 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
57	Idiopathic dilated cardiomyopathy;Dilated cardiomyopathy;DCM;
74	Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia;

177

PI3K-Akt signaling pathway 💬

[1] PRL 💬

Cabergoline 💬

Cabergoline

[4] 6 , 74, 75, 77 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;Parkinson syndrome;Parkinsonian syndrome;
74	Prolactin secreting pituitary adenoma;Pituitary PRL secretion hyperthyroidism;Prolactinoma;Prolactin secreting adenoma;Hyperprolactinemia;
75	Cushing disease;Cushing syndrome;
77	Growth hormone secreting pituitary adenoma;Excessive secretion of growth hormone;Pituitary growth hormone secretion hyperthyroidism;Acromegaly;

178

PI3K-Akt signaling pathway 💬

[1] PRL 💬

Terguride 💬

Terguride

[2] 51, 86 💬

179

PI3K-Akt signaling pathway 💬

[1] RELA 💬

Edasalonexent 💬

Edasalonexent

[1] 113 💬

Disease ID

Name

113

Muscular dystrophy;Dystrophinopathies;Duchenne muscular dystrophy;DMD;Becker muscular dystrophy;BMD;Limb-girdle muscular dystrophy;LGMD;Congenital muscular dystrophy;CMD;Fukuyama-type congenital muscular dystrophy;FCMD;Walker-Warburg syndrome;WWS;Muscle-Eye-Brain disease;MEB disease;α-dystroglycanopathy;Integrin α7 deficient CMD;CIntegrin α7 deficient ongenital muscular dystrophy;Merosin-deficient congenital muscular dystrophy;Ullrich congenital muscular dystrophy;Laminopathy;Rigid spine syndrome;Dynamin 2 deficient congenital muscular dystrophy;Telesonin-deficient congenital muscular dystrophy;Congenital muscular dystrophy with mitochondrial structural abnormalities;Facioscapulohumeral muscular dystrophy;FSMD;Myotonic dystrophy;Dystrophia myotonica;DM;Emery-Dreifuss muscular dystrophy;EDMD;Oculopharyngeal muscular dystrophy;OPMD;Myotilinopathy;Caveolinopathy;Limb gridle muscular dystrophy 1C;LGMD1C;Desminopathy;Sarcoglycanopathy;

180

PI3K-Akt signaling pathway 💬

[1] RXRA 💬

Acitretin 💬

Acitretin

[1] 37 💬

181

PI3K-Akt signaling pathway 💬

[1] RXRA 💬

Alitretinoin 💬

Alitretinoin

[1] 49 💬

182

PI3K-Akt signaling pathway 💬

[1] RXRA 💬

Bexarotene 💬

Bexarotene

[2] 13, 75 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
75	Cushing disease;Cushing syndrome;

183

PI3K-Akt signaling pathway 💬

[1] SYK 💬

Fostamatinib 💬

Fostamatinib

[5] 46, 49, 61, 63, 66 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis;

184

PI3K-Akt signaling pathway 💬

[1] SYK 💬

Fostamatinib disodium 💬

Fostamatinib

[5] 46, 49, 61, 63, 66 💬

Disease ID	Name
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;Systemic rheumatoid vasculitis;SRV;
49	Systemic lupus erythematosus;SLE;
61	Autoimmune hemolytic anemia;AIHA;Cold agglutinin disease;CAD;Paroxysmal cold hemoglobinuria;Evans syndrome;
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;Glomerulonephritis;

185

PI3K-Akt signaling pathway 💬

[1] VEGFA 💬

Bevacizumab 💬

Bevacizumab

[9] 13, 34, 85, 86, 87, 89, 227, 280, 331 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;Multiple sclerosis;Neuromyelitis optica;Neuromyelitis optica spectrum disorder;NMOSD;Balo concentric sclerosis;Baló concentric sclerosis;
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
85	Idiopathic interstitial pneumonia;IIPs;Idiopathic pulmonary fibrosis;IPF;Idiopathic non-specific interstitial pneumonia;Idiopathic NSIP;Respiratory bronchiolitis - associated interstitial lung disease;RB-ILD;Desquamative interstitial pneumonia;DIP;Cryptogenic organizing pneumonia;COP;Acute interstitial pneumonia;AIP;Idiopathic lymphocytic interstitial pneumonia;Idiopathic LIP;Idiopathic PPFE;
86	Pulmonary arterial hypertension;PAH;
87	Pulmonary veno-occlusive disease;PVOD;Pulmonary capillary hemangiomatosis;PCH;
89	Lymphangioleiomyomatosis;LAM;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;Gigantic arteriovenous malformation;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

186

PI3K-Akt signaling pathway 💬

[1] VEGFA 💬

Ranibizumab 💬

Ranibizumab

[4] 34, 166, 227, 301 💬

Disease ID	Name
34	Neurofibromatosis;Neurofibromatosis type 1;NF1;Recklinghausen disease;Neurofibromatosis type 2;NF2;
166	Pseudoxanthoma elasticum;PXE;
227	Osler disease;Hereditary hemorrhagic telangiectasia;HHT;Osler-Weber-Rendu disease;
301	Macular dystrophy;Vitelliform macular dystrophy;Best vitelliform macular dystrophy;Best disease;Stargardt disease;Occult macular dystrophy;Cone dystrophy;Cone rod dystrophy;X-linked juvenile retinoschisis;Central areolar choroidal dystrophy;

187

PI3K-Akt signaling pathway 💬

[1] VWF 💬

Caplacizumab 💬

Caplacizumab

[2] 63, 64 💬

Disease ID	Name
63	Idiopathic thrombocytopenic purpura;Immune thrombocytopenia;Primary immune thrombocytopenia;Autoimmune thrombocytopenic purpura;Immune thrombocytopenic purpura;
64	Thrombotic thrombocytopenic purpura;TTP;Upshaw-Schulman syndrome;USS;