Gene

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Acute myeloid leukemia 💬

[2] PML, RARA 💬

Tretinoin 💬

[6] 2 , 62, 63, 75, 94, 231 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
75	Cushing disease;Cushing;
94	Primary sclerosing cholangitis;PSC;
231	Alpha-1-antitrypsin deficiency;AATD;

Adipocytokine signaling pathway 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Alcoholism 💬

[1] ADORA2B 💬

[1] 63 💬

Aldosterone synthesis and secretion 💬

[1] PDE2A 💬

[1] 63 💬

Allograft rejection 💬

[1] CD40LG 💬

Toralizumab 💬

[1] 63 💬

Alzheimer disease 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Alzheimer disease 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

Alzheimer disease 💬

[1] PSMB5 💬

Bortezomib 💬

[17] 11, 13, 26, 28, 46, 49, 51, 61, 63, 64, 66, 222, 228, 256, 283, 288, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
61	Autoimmune hemolytic anemia;AIHA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
222	Primary nephrotic syndrome;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Amphetamine addiction 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

AMPK signaling pathway 💬

[1] HMGCR 💬

Atorvastatin 💬

[19] 13, 46, 49, 51, 58, 63, 79, 84, 88, 93, 96, 97, 160, 222, 225, 265, 271, 297, 299 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
58	Hypertrophic cardiomyopathy;HCM;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
79	Homozygous familial hypercholesterolemia;
84	Sarcoidosis;
88	Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
160	Congenital ichthyosis;
222	Primary nephrotic syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
265	Lipodystrophy;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
297	Alagille syndrome;
299	Cystic fibrosis;

AMPK signaling pathway 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Amyotrophic lateral sclerosis 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Amyotrophic lateral sclerosis 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

Amyotrophic lateral sclerosis 💬

[1] PSMB5 💬

Bortezomib 💬

[17] 11, 13, 26, 28, 46, 49, 51, 61, 63, 64, 66, 222, 228, 256, 283, 288, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
61	Autoimmune hemolytic anemia;AIHA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
222	Primary nephrotic syndrome;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Apelin signaling pathway 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Apelin signaling pathway 💬

[1] PDE3B 💬

[1] 63 💬

Arrhythmogenic right ventricular cardiomyopathy 💬

[1] ITGA4 💬

Natalizumab 💬

[6] 13, 15, 25, 46, 63, 96 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
96	Crohn disease;Terminal ileitis;

Asthma 💬

[1] CD40LG 💬

Toralizumab 💬

[1] 63 💬

Autoimmune thyroid disease 💬

[1] CD40LG 💬

Toralizumab 💬

[1] 63 💬

Autophagy - animal 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Autophagy - other 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Axon guidance 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

B cell receptor signaling pathway 💬

[1] BTK 💬

[4] 13, 49, 61, 63 💬

B cell receptor signaling pathway 💬

[1] BTK 💬

Zanubrutinib 💬

[5] 13, 63, 222, 300, 331 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
222	Primary nephrotic syndrome;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

B cell receptor signaling pathway 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

Bile secretion 💬

[1] HMGCR 💬

Atorvastatin 💬

[19] 13, 46, 49, 51, 58, 63, 79, 84, 88, 93, 96, 97, 160, 222, 225, 265, 271, 297, 299 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
58	Hypertrophic cardiomyopathy;HCM;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
79	Homozygous familial hypercholesterolemia;
84	Sarcoidosis;
88	Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
160	Congenital ichthyosis;
222	Primary nephrotic syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
265	Lipodystrophy;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
297	Alagille syndrome;
299	Cystic fibrosis;

Breast cancer 💬

[2] ESR1, PGR 💬

Danazol 💬

[5] 60, 63, 64, 65, 285 💬

Breast cancer 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

C-type lectin receptor signaling pathway 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

[4] ADORA2B, PDE1A, PDE1B, PDE1C 💬

[1] 63 💬

[1] CD38 💬

Daratumumab 💬

[5] 13, 28, 48, 49, 63 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
28	Systemic amyloidosis;AL amyloidosis;
48	Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;
49	Systemic lupus erythematosus;SLE;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;

[1] CD38 💬

Mezagitamab 💬

[2] 63, 66 💬

[1] CYSLTR1 💬

Montelukast 💬

Montelukast

[8] 6 , 13, 46, 61, 63, 85, 98, 228 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
61	Autoimmune hemolytic anemia;AIHA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
85	Idiopathic interstitial pneumonia;IIPs;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

cAMP signaling pathway 💬

[8] ADORA1, PDE10A, PDE3A, PDE3B, PDE4A, PDE4B, PDE4C, PDE4D 💬

Name	Full Name
ADORA1	adenosine A1 receptor
PDE10A	phosphodiesterase 10A
PDE3A	phosphodiesterase 3A
PDE3B	phosphodiesterase 3B
PDE4A	phosphodiesterase 4A
PDE4B	phosphodiesterase 4B
PDE4C	phosphodiesterase 4C
PDE4D	phosphodiesterase 4D

[1] 63 💬

Cell adhesion molecules 💬

[1] CD40LG 💬

Toralizumab 💬

[1] 63 💬

Cell adhesion molecules 💬

[1] ITGA4 💬

Natalizumab 💬

[6] 13, 15, 25, 46, 63, 96 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
96	Crohn disease;Terminal ileitis;

Cellular senescence 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Cellular senescence 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

Central carbon metabolism in cancer 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

cGMP-PKG signaling pathway 💬

[4] ADORA1, PDE2A, PDE3A, PDE3B 💬

[1] 63 💬

cGMP-PKG signaling pathway 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

Chemical carcinogenesis - receptor activation 💬

[3] AR, ESR1, PGR 💬

Danazol 💬

[5] 60, 63, 64, 65, 285 💬

Chemical carcinogenesis - receptor activation 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Choline metabolism in cancer 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Collecting duct acid secretion 💬

[2] ATP4A, ATP4B 💬

Lansoprazole 💬

[7] 63, 71, 85, 98, 166, 222, 299 💬

Disease ID	Name
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
71	Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;
85	Idiopathic interstitial pneumonia;IIPs;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
166	Pseudoxanthoma elasticum;PXE;
222	Primary nephrotic syndrome;
299	Cystic fibrosis;

Collecting duct acid secretion 💬

[2] ATP4A, ATP4B 💬

Vonoprazan 💬

[2] 63, 98 💬

Disease ID	Name
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;

Colorectal cancer 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Cortisol synthesis and secretion 💬

[2] PDE8A, PDE8B 💬

[1] 63 💬

Cushing syndrome 💬

[3] PDE11A, PDE8A, PDE8B 💬

[1] 63 💬

Cysteine and methionine metabolism 💬

[3] DNMT1, DNMT3A, DNMT3B 💬

Decitabine 💬

Decitabine

[3] 13, 60, 63 💬

[1] CD40LG 💬

Toralizumab 💬

[1] 63 💬

[1] MPL 💬

Avatrombopag 💬

Avatrombopag

[2] 60, 63 💬

[1] MPL 💬

Romiplostim 💬

Romiplostim

[4] 60, 63, 64, 65 💬

[1] TNFRSF13C 💬

Ianalumab 💬

[7] 35, 46, 49, 53, 61, 63, 95 💬

Disease ID	Name
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
61	Autoimmune hemolytic anemia;AIHA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
95	Autoimmune hepatitis;

[1] TNFSF13B 💬

Belimumab 💬

[13] 11, 13, 43, 44, 46, 49, 51, 53, 63, 66, 222, 296, 300 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
222	Primary nephrotic syndrome;
296	Biliary atresia;
300	IgG4-related disease;

Diabetic cardiomyopathy 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Dilated cardiomyopathy 💬

[1] ITGA4 💬

Natalizumab 💬

[6] 13, 15, 25, 46, 63, 96 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
96	Crohn disease;Terminal ileitis;

Dopaminergic synapse 💬

[3] PPP3CA, PPP3CB, PPP3CC 💬

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

ECM-receptor interaction 💬

[1] ITGA4 💬

Natalizumab 💬

[6] 13, 15, 25, 46, 63, 96 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
96	Crohn disease;Terminal ileitis;

EGFR tyrosine kinase inhibitor resistance 💬

[1] MTOR 💬

Sirolimus 💬

Endocrine and other factor-regulated calcium reabsorption 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

[1] ESR1 💬

Danazol 💬

[5] 60, 63, 64, 65, 285 💬

Endocrine resistance 💬

[1] ESR1 💬

Danazol 💬

[5] 60, 63, 64, 65, 285 💬

Endocrine resistance 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Endocytosis 💬

[1] PML 💬

Tretinoin 💬

[6] 2 , 62, 63, 75, 94, 231 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
75	Cushing disease;Cushing;
94	Primary sclerosing cholangitis;PSC;
231	Alpha-1-antitrypsin deficiency;AATD;

Epstein-Barr virus infection 💬

[1] BTK 💬

[4] 13, 49, 61, 63 💬

Epstein-Barr virus infection 💬

[1] BTK 💬

Zanubrutinib 💬

[5] 13, 63, 222, 300, 331 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
222	Primary nephrotic syndrome;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

ErbB signaling pathway 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Estrogen signaling pathway 💬

[2] ESR1, PGR 💬

Danazol 💬

[5] 60, 63, 64, 65, 285 💬

Estrogen signaling pathway 💬

[1] RARA 💬

Tretinoin 💬

[6] 2 , 62, 63, 75, 94, 231 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
75	Cushing disease;Cushing;
94	Primary sclerosing cholangitis;PSC;
231	Alpha-1-antitrypsin deficiency;AATD;

Fc epsilon RI signaling pathway 💬

[1] BTK 💬

[4] 13, 49, 61, 63 💬

Fc epsilon RI signaling pathway 💬

[1] BTK 💬

Zanubrutinib 💬

[5] 13, 63, 222, 300, 331 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
222	Primary nephrotic syndrome;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Focal adhesion 💬

[1] ITGA4 💬

Natalizumab 💬

[6] 13, 15, 25, 46, 63, 96 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
96	Crohn disease;Terminal ileitis;

Gastric acid secretion 💬

[2] ATP4A, ATP4B 💬

Lansoprazole 💬

[7] 63, 71, 85, 98, 166, 222, 299 💬

Disease ID	Name
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
71	Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;
85	Idiopathic interstitial pneumonia;IIPs;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
166	Pseudoxanthoma elasticum;PXE;
222	Primary nephrotic syndrome;
299	Cystic fibrosis;

Gastric acid secretion 💬

[2] ATP4A, ATP4B 💬

Vonoprazan 💬

[2] 63, 98 💬

Disease ID	Name
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;

Gastric cancer 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Gastric cancer 💬

[1] RARB 💬

Tretinoin 💬

[6] 2 , 62, 63, 75, 94, 231 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
75	Cushing disease;Cushing;
94	Primary sclerosing cholangitis;PSC;
231	Alpha-1-antitrypsin deficiency;AATD;

Glioma 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Glucagon signaling pathway 💬

[1] PDE3B 💬

[1] 63 💬

Glucagon signaling pathway 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

Glutamatergic synapse 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

Growth hormone synthesis, secretion and action 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

[1] CD38 💬

Daratumumab 💬

[5] 13, 28, 48, 49, 63 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
28	Systemic amyloidosis;AL amyloidosis;
48	Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;
49	Systemic lupus erythematosus;SLE;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;

[1] CD38 💬

Mezagitamab 💬

[2] 63, 66 💬

[1] ITGA4 💬

Natalizumab 💬

[6] 13, 15, 25, 46, 63, 96 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
96	Crohn disease;Terminal ileitis;

[1] MS4A1 💬

Rituximab 💬

Name	Other Names
Rituximab	Rituximab (USAN/INN) Rituximab (genetical recombination) (JAN) Rituximab (genetical recombination) [Rituximab biosimilar 1] (JAN) Rituximab (genetical recombination) [Rituximab biosimilar 2] (JAN) Rituximab-abbs Rituximab-pvvr Rituximab-arrx Rituxan (TN) Riabni (TN) Truximab (TN) RUXIENCE TRUXIMA

Rituximab

[48] 11, 13, 14, 19, 26, 35, 36, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 52, 53, 55, 56, 60, 61, 63, 64, 65, 66, 83, 84, 85, 86, 93, 94, 96, 97, 162, 222, 229, 256, 271, 274, 283, 284, 285, 288, 296, 300, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
14	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating poly (radiculo) neuropathy;CIDP;Multifocal motor neuropathy;
19	Lysosomal storage disease;Lysosomal disease;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
35	Pemphigus;
36	Epidermolysis bullosa;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;
52	Mixed connective tissue disease;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
83	Addison disease;Primary chronic adrenocortical insufficiency;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
94	Primary sclerosing cholangitis;PSC;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
162	Pemphigoid;
222	Primary nephrotic syndrome;
229	Autoimmune pulmonary alveolar proteinosis;Congenital pulmonary alveolar proteinosis;Hereditary pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis;PAP;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;
296	Biliary atresia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Hepatocellular carcinoma 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Herpes simplex virus 1 infection 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Herpes simplex virus 1 infection 💬

[1] PML 💬

Tretinoin 💬

[6] 2 , 62, 63, 75, 94, 231 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
75	Cushing disease;Cushing;
94	Primary sclerosing cholangitis;PSC;
231	Alpha-1-antitrypsin deficiency;AATD;

HIF-1 signaling pathway 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Human cytomegalovirus infection 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Human cytomegalovirus infection 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

Human immunodeficiency virus 1 infection 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Human immunodeficiency virus 1 infection 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

Human papillomavirus infection 💬

[1] ITGA4 💬

Natalizumab 💬

[6] 13, 15, 25, 46, 63, 96 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
96	Crohn disease;Terminal ileitis;

Human papillomavirus infection 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Human T-cell leukemia virus 1 infection 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

Human T-cell leukemia virus 1 infection 💬

[1] TNFRSF13C 💬

Ianalumab 💬

[7] 35, 46, 49, 53, 61, 63, 95 💬

Disease ID	Name
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
61	Autoimmune hemolytic anemia;AIHA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
95	Autoimmune hepatitis;

100

Huntington disease 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

101

Huntington disease 💬

[1] PSMB5 💬

Bortezomib 💬

[17] 11, 13, 26, 28, 46, 49, 51, 61, 63, 64, 66, 222, 228, 256, 283, 288, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
61	Autoimmune hemolytic anemia;AIHA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
222	Primary nephrotic syndrome;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

102

Hypertrophic cardiomyopathy 💬

[1] ITGA4 💬

Natalizumab 💬

[6] 13, 15, 25, 46, 63, 96 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
96	Crohn disease;Terminal ileitis;

103

Influenza A 💬

[1] PML 💬

Tretinoin 💬

[6] 2 , 62, 63, 75, 94, 231 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
75	Cushing disease;Cushing;
94	Primary sclerosing cholangitis;PSC;
231	Alpha-1-antitrypsin deficiency;AATD;

104

Insulin resistance 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

105

Insulin signaling pathway 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

106

Insulin signaling pathway 💬

[1] PDE3B 💬

[1] 63 💬

107

[1] CD40LG 💬

Toralizumab 💬

[1] 63 💬

108

[1] ITGA4 💬

Natalizumab 💬

[6] 13, 15, 25, 46, 63, 96 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
96	Crohn disease;Terminal ileitis;

109

[1] TNFRSF13C 💬

Ianalumab 💬

[7] 35, 46, 49, 53, 61, 63, 95 💬

Disease ID	Name
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
61	Autoimmune hemolytic anemia;AIHA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
95	Autoimmune hepatitis;

110

[1] TNFSF13B 💬

Belimumab 💬

[13] 11, 13, 43, 44, 46, 49, 51, 53, 63, 66, 222, 296, 300 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
222	Primary nephrotic syndrome;
296	Biliary atresia;
300	IgG4-related disease;

111

JAK-STAT signaling pathway 💬

[1] MPL 💬

Avatrombopag 💬

Avatrombopag

[2] 60, 63 💬

112

JAK-STAT signaling pathway 💬

[1] MPL 💬

Romiplostim 💬

Romiplostim

[4] 60, 63, 64, 65 💬

113

JAK-STAT signaling pathway 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

114

Kaposi sarcoma-associated herpesvirus infection 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

115

Kaposi sarcoma-associated herpesvirus infection 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

116

Leishmaniasis 💬

[1] ITGA4 💬

Natalizumab 💬

[6] 13, 15, 25, 46, 63, 96 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
96	Crohn disease;Terminal ileitis;

117

Leukocyte transendothelial migration 💬

[1] ITGA4 💬

Natalizumab 💬

[6] 13, 15, 25, 46, 63, 96 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
96	Crohn disease;Terminal ileitis;

118

Lipid and atherosclerosis 💬

[1] CD40LG 💬

Toralizumab 💬

[1] 63 💬

119

Lipid and atherosclerosis 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

120

Long-term potentiation 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

121

Longevity regulating pathway 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

122

Longevity regulating pathway - multiple species 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

123

Malaria 💬

[1] CD40LG 💬

Toralizumab 💬

[1] 63 💬

124

MAPK signaling pathway 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

125

[2] ATP4A, ATP4B 💬

Lansoprazole 💬

[7] 63, 71, 85, 98, 166, 222, 299 💬

Disease ID	Name
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
71	Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;
85	Idiopathic interstitial pneumonia;IIPs;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
166	Pseudoxanthoma elasticum;PXE;
222	Primary nephrotic syndrome;
299	Cystic fibrosis;

126

[2] ATP4A, ATP4B 💬

Vonoprazan 💬

[2] 63, 98 💬

Disease ID	Name
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;

127

[1] CD38 💬

Daratumumab 💬

[5] 13, 28, 48, 49, 63 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
28	Systemic amyloidosis;AL amyloidosis;
48	Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;
49	Systemic lupus erythematosus;SLE;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;

128

[1] CD38 💬

Mezagitamab 💬

[2] 63, 66 💬

129

[3] DNMT1, DNMT3A, DNMT3B 💬

Decitabine 💬

Decitabine

[3] 13, 60, 63 💬

130

[1] HMGCR 💬

Atorvastatin 💬

[19] 13, 46, 49, 51, 58, 63, 79, 84, 88, 93, 96, 97, 160, 222, 225, 265, 271, 297, 299 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
58	Hypertrophic cardiomyopathy;HCM;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
79	Homozygous familial hypercholesterolemia;
84	Sarcoidosis;
88	Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
160	Congenital ichthyosis;
222	Primary nephrotic syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
265	Lipodystrophy;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
297	Alagille syndrome;
299	Cystic fibrosis;

131

[16] PDE10A, PDE11A, PDE1A, PDE1B, PDE1C, PDE2A, PDE3A, PDE3B, PDE4A, PDE4B, PDE4C, PDE4D, PDE7A, PDE7B, PDE8A, PDE8B 💬

Name	Full Name
PDE10A	phosphodiesterase 10A
PDE11A	phosphodiesterase 11A
PDE1A	phosphodiesterase 1A
PDE1B	phosphodiesterase 1B
PDE1C	phosphodiesterase 1C
PDE2A	phosphodiesterase 2A
PDE3A	phosphodiesterase 3A
PDE3B	phosphodiesterase 3B
PDE4A	phosphodiesterase 4A
PDE4B	phosphodiesterase 4B
PDE4C	phosphodiesterase 4C
PDE4D	phosphodiesterase 4D
PDE7A	phosphodiesterase 7A
PDE7B	phosphodiesterase 7B
PDE8A	phosphodiesterase 8A
PDE8B	phosphodiesterase 8B

[1] 63 💬

132

MicroRNAs in cancer 💬

[3] DNMT1, DNMT3A, DNMT3B 💬

Decitabine 💬

Decitabine

[3] 13, 60, 63 💬

133

MicroRNAs in cancer 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

134

Morphine addiction 💬

[17] ADORA1, PDE10A, PDE11A, PDE1A, PDE1B, PDE1C, PDE2A, PDE3A, PDE3B, PDE4A, PDE4B, PDE4C, PDE4D, PDE7A, PDE7B, PDE8A, PDE8B 💬

Name	Full Name
ADORA1	adenosine A1 receptor
PDE10A	phosphodiesterase 10A
PDE11A	phosphodiesterase 11A
PDE1A	phosphodiesterase 1A
PDE1B	phosphodiesterase 1B
PDE1C	phosphodiesterase 1C
PDE2A	phosphodiesterase 2A
PDE3A	phosphodiesterase 3A
PDE3B	phosphodiesterase 3B
PDE4A	phosphodiesterase 4A
PDE4B	phosphodiesterase 4B
PDE4C	phosphodiesterase 4C
PDE4D	phosphodiesterase 4D
PDE7A	phosphodiesterase 7A
PDE7B	phosphodiesterase 7B
PDE8A	phosphodiesterase 8A
PDE8B	phosphodiesterase 8B

[1] 63 💬

135

mTOR signaling pathway 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

136

Natural killer cell mediated cytotoxicity 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

137

[2] ADORA1, ADORA2B 💬

[1] 63 💬

138

[1] CYSLTR1 💬

Montelukast 💬

Montelukast

[8] 6 , 13, 46, 61, 63, 85, 98, 228 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
61	Autoimmune hemolytic anemia;AIHA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
85	Idiopathic interstitial pneumonia;IIPs;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;

139

[1] NR3C1 💬

Dexamethasone 💬

Dexamethasone

[22] 13, 14, 16, 28, 35, 46, 53, 63, 64, 65, 70, 81, 84, 96, 97, 162, 222, 235, 257, 283, 296, 299 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
14	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating poly (radiculo) neuropathy;CIDP;Multifocal motor neuropathy;
16	Crow-Fukase syndrome;POEMS syndrome;
28	Systemic amyloidosis;AL amyloidosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
70	Spinal stenosis;Extensive spinal canal stenosis;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
84	Sarcoidosis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
162	Pemphigoid;
222	Primary nephrotic syndrome;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
257	Hepatic glycogenosis;Liver glycogenosis;Hepatic glycogen storage disease;Liver glycogen storage disease;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
296	Biliary atresia;
299	Cystic fibrosis;

140

[1] NR3C1 💬

Methylprednisolone 💬

Methylprednisolone

[46] 2 , 11, 13, 14, 18, 19, 25, 26, 35, 38, 39, 40, 41, 42, 43, 45, 46, 49, 50, 51, 60, 62, 63, 64, 65, 66, 83, 84, 85, 86, 93, 95, 96, 97, 145, 162, 164, 211, 220, 222, 224, 271, 283, 284, 285, 296 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
14	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating poly (radiculo) neuropathy;CIDP;Multifocal motor neuropathy;
18	Spinocerebellar degeneration;SCD;
19	Lysosomal storage disease;Lysosomal disease;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
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;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;
60	Aplastic anemia;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
83	Addison disease;Primary chronic adrenocortical insufficiency;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
145	West syndrome;Infantile spasm;
162	Pemphigoid;
164	Oculocutaneous albinism;
211	Hypoplastic left heart syndrome;HLHS;
220	Rapidly progressive glomerulonephritis;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
296	Biliary atresia;

141

[1] NR3C1 💬

Prednisolone 💬

Prednisolone

[42] 3 , 11, 13, 14, 25, 26, 35, 38, 39, 40, 41, 43, 44, 45, 46, 49, 50, 51, 56, 60, 61, 63, 64, 65, 66, 75, 81, 84, 85, 95, 96, 97, 107, 113, 145, 162, 222, 269, 271, 296, 299, 300 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
14	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating poly (radiculo) neuropathy;CIDP;Multifocal motor neuropathy;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
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;
41	Giant cell arteritis;Temporal arteritis;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
75	Cushing disease;Cushing;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
145	West syndrome;Infantile spasm;
162	Pemphigoid;
222	Primary nephrotic syndrome;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
296	Biliary atresia;
299	Cystic fibrosis;
300	IgG4-related disease;

142

[1] NR3C1 💬

Prednisone 💬

Prednisone

[45] 2 , 11, 13, 14, 19, 26, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 61, 63, 64, 65, 66, 79, 81, 84, 85, 86, 95, 96, 97, 113, 162, 164, 205, 222, 224, 228, 283, 284, 288, 299, 300, 307, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
14	Chronic inflammatory demyelinating polyneuropathy;Chronic inflammatory demyelinating poly (radiculo) neuropathy;CIDP;Multifocal motor neuropathy;
19	Lysosomal storage disease;Lysosomal disease;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
35	Pemphigus;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
61	Autoimmune hemolytic anemia;AIHA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
79	Homozygous familial hypercholesterolemia;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
205	Fragile X syndrome related disease;Fragile X-associated tremor/ataxia syndrome;FXTAS;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;
299	Cystic fibrosis;
300	IgG4-related disease;
307	Canavan disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

143

Neutrophil extracellular trap formation 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

144

[1] BTK 💬

[4] 13, 49, 61, 63 💬

145

[1] BTK 💬

Zanubrutinib 💬

[5] 13, 63, 222, 300, 331 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
222	Primary nephrotic syndrome;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

146

[1] CD40LG 💬

Toralizumab 💬

[1] 63 💬

147

[1] TNFRSF13C 💬

Ianalumab 💬

[7] 35, 46, 49, 53, 61, 63, 95 💬

Disease ID	Name
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
61	Autoimmune hemolytic anemia;AIHA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
95	Autoimmune hepatitis;

148

[1] TNFSF13B 💬

Belimumab 💬

[13] 11, 13, 43, 44, 46, 49, 51, 53, 63, 66, 222, 296, 300 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
222	Primary nephrotic syndrome;
296	Biliary atresia;
300	IgG4-related disease;

149

Nicotinate and nicotinamide metabolism 💬

[1] CD38 💬

Daratumumab 💬

[5] 13, 28, 48, 49, 63 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
28	Systemic amyloidosis;AL amyloidosis;
48	Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;
49	Systemic lupus erythematosus;SLE;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;

150

Nicotinate and nicotinamide metabolism 💬

[1] CD38 💬

Mezagitamab 💬

[2] 63, 66 💬

151

Non-small cell lung cancer 💬

[1] RARB 💬

Tretinoin 💬

[6] 2 , 62, 63, 75, 94, 231 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
75	Cushing disease;Cushing;
94	Primary sclerosing cholangitis;PSC;
231	Alpha-1-antitrypsin deficiency;AATD;

152

Olfactory transduction 💬

[4] PDE1A, PDE1B, PDE1C, PDE2A 💬

[1] 63 💬

153

Oocyte meiosis 💬

[2] AR, PGR 💬

Danazol 💬

[5] 60, 63, 64, 65, 285 💬

154

Oocyte meiosis 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

155

Osteoclast differentiation 💬

[1] BTK 💬

[4] 13, 49, 61, 63 💬

156

Osteoclast differentiation 💬

[1] BTK 💬

Zanubrutinib 💬

[5] 13, 63, 222, 300, 331 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
222	Primary nephrotic syndrome;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

157

Osteoclast differentiation 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

158

Oxidative phosphorylation 💬

[2] ATP4A, ATP4B 💬

Lansoprazole 💬

[7] 63, 71, 85, 98, 166, 222, 299 💬

Disease ID	Name
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
71	Idiopathic osteonecrosis of the femoral head;Idiopathic femoral head necrosis;
85	Idiopathic interstitial pneumonia;IIPs;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
166	Pseudoxanthoma elasticum;PXE;
222	Primary nephrotic syndrome;
299	Cystic fibrosis;

159

Oxidative phosphorylation 💬

[2] ATP4A, ATP4B 💬

Vonoprazan 💬

[2] 63, 98 💬

Disease ID	Name
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;

160

Oxytocin signaling pathway 💬

[1] CD38 💬

Daratumumab 💬

[5] 13, 28, 48, 49, 63 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
28	Systemic amyloidosis;AL amyloidosis;
48	Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;
49	Systemic lupus erythematosus;SLE;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;

161

Oxytocin signaling pathway 💬

[1] CD38 💬

Mezagitamab 💬

[2] 63, 66 💬

162

Oxytocin signaling pathway 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

163

Pancreatic cancer 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

164

Pancreatic secretion 💬

[1] CD38 💬

Daratumumab 💬

[5] 13, 28, 48, 49, 63 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
28	Systemic amyloidosis;AL amyloidosis;
48	Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;
49	Systemic lupus erythematosus;SLE;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;

165

Pancreatic secretion 💬

[1] CD38 💬

Mezagitamab 💬

[2] 63, 66 💬

166

Parathyroid hormone synthesis, secretion and action 💬

[4] PDE4A, PDE4B, PDE4C, PDE4D 💬

[1] 63 💬

167

Parkinson disease 💬

[1] PSMB5 💬

Bortezomib 💬

[17] 11, 13, 26, 28, 46, 49, 51, 61, 63, 64, 66, 222, 228, 256, 283, 288, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
61	Autoimmune hemolytic anemia;AIHA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
222	Primary nephrotic syndrome;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

168

Pathways in cancer 💬

[2] AR, ESR1 💬

Danazol 💬

[5] 60, 63, 64, 65, 285 💬

169

Pathways in cancer 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

170

Pathways in cancer 💬

[3] PML, RARA, RARB 💬

Tretinoin 💬

[6] 2 , 62, 63, 75, 94, 231 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
75	Cushing disease;Cushing;
94	Primary sclerosing cholangitis;PSC;
231	Alpha-1-antitrypsin deficiency;AATD;

171

Pathways of neurodegeneration - multiple diseases 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

172

Pathways of neurodegeneration - multiple diseases 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

173

Pathways of neurodegeneration - multiple diseases 💬

[1] PSMB5 💬

Bortezomib 💬

PD-L1 expression and PD-1 checkpoint pathway in cancer 💬

[17] 11, 13, 26, 28, 46, 49, 51, 61, 63, 64, 66, 222, 228, 256, 283, 288, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
61	Autoimmune hemolytic anemia;AIHA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
222	Primary nephrotic syndrome;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

174

[1] MTOR 💬

Sirolimus 💬

PD-L1 expression and PD-1 checkpoint pathway in cancer 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

175

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

176

Phospholipase D signaling pathway 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

177

PI3K-Akt signaling pathway 💬

[1] ITGA4 💬

Natalizumab 💬

[6] 13, 15, 25, 46, 63, 96 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
96	Crohn disease;Terminal ileitis;

178

PI3K-Akt signaling pathway 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

179

Platelet activation 💬

[1] BTK 💬

[4] 13, 49, 61, 63 💬

180

Platelet activation 💬

[1] BTK 💬

Zanubrutinib 💬

[5] 13, 63, 222, 300, 331 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
222	Primary nephrotic syndrome;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

181

[1] BTK 💬

[4] 13, 49, 61, 63 💬

182

[1] BTK 💬

Zanubrutinib 💬

[5] 13, 63, 222, 300, 331 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
222	Primary nephrotic syndrome;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

183

[1] CD40LG 💬

Toralizumab 💬

[1] 63 💬

184

[1] TNFRSF13C 💬

Ianalumab 💬

[7] 35, 46, 49, 53, 61, 63, 95 💬

Disease ID	Name
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
61	Autoimmune hemolytic anemia;AIHA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
95	Autoimmune hepatitis;

185

Prion disease 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

186

Prion disease 💬

[1] PSMB5 💬

Bortezomib 💬

[17] 11, 13, 26, 28, 46, 49, 51, 61, 63, 64, 66, 222, 228, 256, 283, 288, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
61	Autoimmune hemolytic anemia;AIHA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
222	Primary nephrotic syndrome;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

187

Progesterone-mediated oocyte maturation 💬

[1] PDE3B 💬

[1] 63 💬

188

Progesterone-mediated oocyte maturation 💬

[1] PGR 💬

Danazol 💬

[5] 60, 63, 64, 65, 285 💬

189

Prolactin signaling pathway 💬

[1] ESR1 💬

Danazol 💬

[5] 60, 63, 64, 65, 285 💬

190

Prostate cancer 💬

[1] AR 💬

Danazol 💬

[5] 60, 63, 64, 65, 285 💬

191

Prostate cancer 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

192

Proteasome 💬

[1] PSMB5 💬

Bortezomib 💬

[17] 11, 13, 26, 28, 46, 49, 51, 61, 63, 64, 66, 222, 228, 256, 283, 288, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
61	Autoimmune hemolytic anemia;AIHA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
222	Primary nephrotic syndrome;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

193

Proteoglycans in cancer 💬

[1] ESR1 💬

Danazol 💬

[5] 60, 63, 64, 65, 285 💬

194

Proteoglycans in cancer 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

195

Purine metabolism 💬

[16] PDE10A, PDE11A, PDE1A, PDE1B, PDE1C, PDE2A, PDE3A, PDE3B, PDE4A, PDE4B, PDE4C, PDE4D, PDE7A, PDE7B, PDE8A, PDE8B 💬

Name	Full Name
PDE10A	phosphodiesterase 10A
PDE11A	phosphodiesterase 11A
PDE1A	phosphodiesterase 1A
PDE1B	phosphodiesterase 1B
PDE1C	phosphodiesterase 1C
PDE2A	phosphodiesterase 2A
PDE3A	phosphodiesterase 3A
PDE3B	phosphodiesterase 3B
PDE4A	phosphodiesterase 4A
PDE4B	phosphodiesterase 4B
PDE4C	phosphodiesterase 4C
PDE4D	phosphodiesterase 4D
PDE7A	phosphodiesterase 7A
PDE7B	phosphodiesterase 7B
PDE8A	phosphodiesterase 8A
PDE8B	phosphodiesterase 8B

[1] 63 💬

196

Rap1 signaling pathway 💬

[1] ADORA2B 💬

[1] 63 💬

197

Regulation of actin cytoskeleton 💬

[1] ITGA4 💬

Natalizumab 💬

[6] 13, 15, 25, 46, 63, 96 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
96	Crohn disease;Terminal ileitis;

198

Regulation of lipolysis in adipocytes 💬

[2] ADORA1, PDE3B 💬

[1] 63 💬

199

Renin secretion 💬

[6] ADORA1, PDE1A, PDE1B, PDE1C, PDE3A, PDE3B 💬

[1] 63 💬

200

Renin secretion 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

201

Rheumatoid arthritis 💬

[1] TNFSF13B 💬

Belimumab 💬

[13] 11, 13, 43, 44, 46, 49, 51, 53, 63, 66, 222, 296, 300 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
222	Primary nephrotic syndrome;
296	Biliary atresia;
300	IgG4-related disease;

202

Salivary secretion 💬

[1] CD38 💬

Daratumumab 💬

[5] 13, 28, 48, 49, 63 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
28	Systemic amyloidosis;AL amyloidosis;
48	Primary antiphospholipid syndrome;Primary antiphospholipid antibody syndrome;Primary APS;PAPS;
49	Systemic lupus erythematosus;SLE;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;

203

Salivary secretion 💬

[1] CD38 💬

Mezagitamab 💬

[2] 63, 66 💬

204

Shigellosis 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

205

Small cell lung cancer 💬

[1] RARB 💬

Tretinoin 💬

[6] 2 , 62, 63, 75, 94, 231 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
75	Cushing disease;Cushing;
94	Primary sclerosing cholangitis;PSC;
231	Alpha-1-antitrypsin deficiency;AATD;

206

Sphingolipid signaling pathway 💬

[1] ADORA1 💬

[1] 63 💬

207

Spinocerebellar ataxia 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

208

Spinocerebellar ataxia 💬

[1] PSMB5 💬

Bortezomib 💬

[17] 11, 13, 26, 28, 46, 49, 51, 61, 63, 64, 66, 222, 228, 256, 283, 288, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
61	Autoimmune hemolytic anemia;AIHA;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
222	Primary nephrotic syndrome;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

209

Systemic lupus erythematosus 💬

[1] CD40LG 💬

Toralizumab 💬

[1] 63 💬

210

T cell receptor signaling pathway 💬

[1] CD40LG 💬

Toralizumab 💬

[1] 63 💬

211

T cell receptor signaling pathway 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

212

Taste transduction 💬

[3] PDE1A, PDE1B, PDE1C 💬

[1] 63 💬

213

Terpenoid backbone biosynthesis 💬

[1] HMGCR 💬

Atorvastatin 💬

[19] 13, 46, 49, 51, 58, 63, 79, 84, 88, 93, 96, 97, 160, 222, 225, 265, 271, 297, 299 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
58	Hypertrophic cardiomyopathy;HCM;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
79	Homozygous familial hypercholesterolemia;
84	Sarcoidosis;
88	Chronic thromboembolic pulmonary hypertension;CTEPH;Idiopathic chronic pulmonary thromboembolism;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
160	Congenital ichthyosis;
222	Primary nephrotic syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
265	Lipodystrophy;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
297	Alagille syndrome;
299	Cystic fibrosis;

214

Th1 and Th2 cell differentiation 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

215

Th17 cell differentiation 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

216

Th17 cell differentiation 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

217

Th17 cell differentiation 💬

[1] RARA 💬

Tretinoin 💬

[6] 2 , 62, 63, 75, 94, 231 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
75	Cushing disease;Cushing;
94	Primary sclerosing cholangitis;PSC;
231	Alpha-1-antitrypsin deficiency;AATD;

218

Thermogenesis 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

219

Thyroid hormone signaling pathway 💬

[1] ESR1 💬

Danazol 💬

[5] 60, 63, 64, 65, 285 💬

220

Thyroid hormone signaling pathway 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

221

Toxoplasmosis 💬

[1] CD40LG 💬

Toralizumab 💬

[1] 63 💬

222

Transcriptional misregulation in cancer 💬

[2] PML, RARA 💬

Tretinoin 💬

[6] 2 , 62, 63, 75, 94, 231 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
75	Cushing disease;Cushing;
94	Primary sclerosing cholangitis;PSC;
231	Alpha-1-antitrypsin deficiency;AATD;

223

Tuberculosis 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

224

Type II diabetes mellitus 💬

[1] MTOR 💬

Sirolimus 💬

[40] 2 , 13, 15, 17, 19, 34, 35, 36, 46, 49, 51, 53, 60, 61, 62, 63, 65, 66, 67, 84, 85, 86, 89, 96, 98, 137, 157, 158, 192, 193, 222, 256, 277, 278, 279, 280, 281, 283, 300, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
17	Multiple system atrophy;MSA-C;MSA-P;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
84	Sarcoidosis;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
98	Eosinophilic gastrointestinal disease;Eosinophilic gastroenteritis;Eosinophilic esophagitis;Eosinophilic colitis;Eosinophilic gastro-intestinal disorder;EGID;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
192	Cockayne syndrome;CS;
193	Prader-Willi syndrome;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage 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;
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion;Huge venous malformation;Venous malformation;
280	Huge arteriovenous malformation with cervicofacial or limb lesion;Huge arteriovenous malformation;Arteriovenous malformation;
281	Klippel-Trenaunay-Weber syndrome;Klippel-Trenauney-Weber syndrome;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
300	IgG4-related disease;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

225

Ubiquitin mediated proteolysis 💬

[1] PML 💬

Tretinoin 💬

[6] 2 , 62, 63, 75, 94, 231 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
75	Cushing disease;Cushing;
94	Primary sclerosing cholangitis;PSC;
231	Alpha-1-antitrypsin deficiency;AATD;

226

Vascular smooth muscle contraction 💬

[1] ADORA2B 💬

[1] 63 💬

227

VEGF signaling pathway 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

228

Viral myocarditis 💬

[1] CD40LG 💬

Toralizumab 💬

[1] 63 💬

229

Wnt signaling pathway 💬

[5] PPP3CA, PPP3CB, PPP3CC, PPP3R1, PPP3R2 💬

Name	Full Name
PPP3CA	protein phosphatase 3 catalytic subunit alpha
PPP3CB	protein phosphatase 3 catalytic subunit beta
PPP3CC	protein phosphatase 3 catalytic subunit gamma
PPP3R1	protein phosphatase 3 regulatory subunit B, alpha
PPP3R2	protein phosphatase 3 regulatory subunit B, beta

[44] 11, 19, 20, 26, 28, 36, 38, 39, 40, 41, 42, 45, 46, 49, 50, 53, 55, 56, 58, 60, 61, 62, 63, 64, 65, 90, 93, 95, 97, 107, 113, 162, 164, 222, 226, 228, 234, 269, 274, 283, 284, 285, 302, 326 💬

Disease ID	Name
11	Myasthenia gravis;MG;
19	Lysosomal storage disease;Lysosomal disease;
20	Adrenoleukodystrophy;ALD;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
36	Epidermolysis bullosa;
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;
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;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
58	Hypertrophic cardiomyopathy;HCM;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
63	Idiopathic thrombocytopenic purpura;Primary immune thrombocytopenia;
64	Thrombotic thrombocytopenic purpura;TTP;
65	Primary immunodeficiency;
90	Retinitis pigmentosa;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
95	Autoimmune hepatitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
113	Muscular dystrophy;
162	Pemphigoid;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
234	Peroxisomal disease (except Adrenoleukodystrophy);Peroxisomal disease;Peroxisomal disorder;Peroxisome biogenesis disorder;
269	Pyogenic arthritis;Pyoderma gangrenosum;Acne syndrome;PAPA syndrome;
274	Osteogenesis Imperfecta;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
302	Leber hereditary optic neuropathy;
326	Osteopetrosis;

230

Yersinia infection 💬

[1] ITGA4 💬

Natalizumab 💬