Gene

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

Acute myeloid leukemia 💬

[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;

Adipocytokine signaling pathway 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

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;

Adipocytokine signaling pathway 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

Adrenergic signaling in cardiomyocytes 💬

[2] ADRB1, ADRB2 💬

Propranolol 💬

[6] 6 , 158, 167, 227, 278, 296 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
158	Tuberous sclerosis;Tuberous sclerosis complex;
167	Marfan syndrome;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;
296	Biliary atresia;

Alanine, aspartate and glutamate metabolism 💬

[1] ABAT 💬

Vigabatrin 💬

[2] 145, 158 💬

Alcoholic liver disease 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

[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;

[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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

[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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

[1] PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

[1] HMGCR 💬

Simvastatin 💬

[21] 6 , 13, 15, 34, 46, 49, 51, 66, 79, 86, 89, 94, 158, 160, 162, 195, 265, 288, 298, 299, 310 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
34	Neurofibromatosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
79	Homozygous familial hypercholesterolemia;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
94	Primary sclerosing cholangitis;PSC;
158	Tuberous sclerosis;Tuberous sclerosis complex;
160	Congenital ichthyosis;
162	Pemphigoid;
195	Noonan syndrome;
265	Lipodystrophy;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;
298	Hereditary pancreatitis;Chronic pancreatitis;
299	Cystic fibrosis;
310	Congenital anomalies syndrome;

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

[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;

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

[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;

[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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

[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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

Apelin signaling pathway 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

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 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

Arachidonic acid metabolism 💬

[2] PTGS1, PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

Autophagy - animal 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

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 - animal 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

Autophagy - other 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

beta-Alanine metabolism 💬

[1] ABAT 💬

Vigabatrin 💬

[2] 145, 158 💬

Bile secretion 💬

[1] HMGCR 💬

Simvastatin 💬

[21] 6 , 13, 15, 34, 46, 49, 51, 66, 79, 86, 89, 94, 158, 160, 162, 195, 265, 288, 298, 299, 310 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
34	Neurofibromatosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
79	Homozygous familial hypercholesterolemia;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
94	Primary sclerosing cholangitis;PSC;
158	Tuberous sclerosis;Tuberous sclerosis complex;
160	Congenital ichthyosis;
162	Pemphigoid;
195	Noonan syndrome;
265	Lipodystrophy;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;
298	Hereditary pancreatitis;Chronic pancreatitis;
299	Cystic fibrosis;
310	Congenital anomalies syndrome;

Breast cancer 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

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;

Butanoate metabolism 💬

[1] ABAT 💬

Vigabatrin 💬

[2] 145, 158 💬

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

C-type lectin receptor signaling pathway 💬

[1] PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

Calcium signaling pathway 💬

[3] ADRB1, ADRB2, ADRB3 💬

Propranolol 💬

[6] 6 , 158, 167, 227, 278, 296 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
158	Tuberous sclerosis;Tuberous sclerosis complex;
167	Marfan syndrome;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;
296	Biliary atresia;

Calcium 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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

Calcium 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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

cAMP signaling pathway 💬

[2] ADRB1, ADRB2 💬

Propranolol 💬

[6] 6 , 158, 167, 227, 278, 296 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
158	Tuberous sclerosis;Tuberous sclerosis complex;
167	Marfan syndrome;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;
296	Biliary atresia;

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

[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;

[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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

[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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

Central carbon metabolism in cancer 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

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 💬

[3] ADRB1, ADRB2, ADRB3 💬

Propranolol 💬

[6] 6 , 158, 167, 227, 278, 296 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
158	Tuberous sclerosis;Tuberous sclerosis complex;
167	Marfan syndrome;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;
296	Biliary atresia;

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

Chemical carcinogenesis - DNA adducts 💬

[1] PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

[3] ADRB1, ADRB2, ADRB3 💬

Propranolol 💬

[6] 6 , 158, 167, 227, 278, 296 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
158	Tuberous sclerosis;Tuberous sclerosis complex;
167	Marfan syndrome;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;
296	Biliary atresia;

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

[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] VDR 💬

Calcitriol 💬

[9] 18, 37, 46, 49, 66, 96, 158, 235, 326 💬

Disease ID	Name
18	Spinocerebellar degeneration;SCD;
37	Generalised pustular psoriasis;Pustular psoriasis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
96	Crohn disease;Terminal ileitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
326	Osteopetrosis;

Choline metabolism in cancer 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

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;

Circadian rhythm 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

Colorectal cancer 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

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;

Diabetic cardiomyopathy 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

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] ADRB1 💬

Propranolol 💬

[6] 6 , 158, 167, 227, 278, 296 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
158	Tuberous sclerosis;Tuberous sclerosis complex;
167	Marfan syndrome;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;
296	Biliary atresia;

Dopaminergic synapse 💬

[3] PPP3CA, PPP3CB, PPP3CC 💬

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

Dopaminergic synapse 💬

[3] PPP3CA, PPP3CB, PPP3CC 💬

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

EGFR tyrosine kinase inhibitor resistance 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

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] VDR 💬

Calcitriol 💬

[9] 18, 37, 46, 49, 66, 96, 158, 235, 326 💬

Disease ID	Name
18	Spinocerebellar degeneration;SCD;
37	Generalised pustular psoriasis;Pustular psoriasis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
96	Crohn disease;Terminal ileitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
326	Osteopetrosis;

Endocrine resistance 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

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;

ErbB signaling pathway 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

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;

Fluid shear stress and atherosclerosis 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

FoxO signaling pathway 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

GABAergic synapse 💬

[1] ABAT 💬

Vigabatrin 💬

[2] 145, 158 💬

GABAergic synapse 💬

[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬

Name	Full Name
GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1
GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2
GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3
GABRA4	gamma-aminobutyric acid type A receptor subunit alpha4
GABRA5	gamma-aminobutyric acid type A receptor subunit alpha5
GABRA6	gamma-aminobutyric acid type A receptor subunit alpha6
GABRB1	gamma-aminobutyric acid type A receptor subunit beta1
GABRB2	gamma-aminobutyric acid type A receptor subunit beta2
GABRB3	gamma-aminobutyric acid type A receptor subunit beta3
GABRD	gamma-aminobutyric acid type A receptor subunit delta
GABRE	gamma-aminobutyric acid type A receptor subunit epsilon
GABRG1	gamma-aminobutyric acid type A receptor subunit gamma1
GABRG2	gamma-aminobutyric acid type A receptor subunit gamma2
GABRG3	gamma-aminobutyric acid type A receptor subunit gamma3
GABRP	gamma-aminobutyric acid type A receptor subunit pi
GABRQ	gamma-aminobutyric acid type A receptor subunit theta

Ganaxolone 💬

[4] 145, 152, 158, 206 💬

Disease ID	Name
145	West syndrome;Infantile spasm;
152	PCDH19 related syndrome;PCDH19 Epilepsy;Epilepsy and mental retardation limited to females;PCDH19 female pediatric epilepsy;PCDH19-related epilepsy;Protocadherin 19 (PCDH19)-related epilepsy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;

Gap junction 💬

[1] ADRB1 💬

Propranolol 💬

[6] 6 , 158, 167, 227, 278, 296 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
158	Tuberous sclerosis;Tuberous sclerosis complex;
167	Marfan syndrome;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;
296	Biliary atresia;

Gastric cancer 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

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;

Glioma 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

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 💬

[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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

Glucagon signaling pathway 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

Growth hormone synthesis, secretion and action 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

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;

Hepatocellular carcinoma 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

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 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

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;

100

HIF-1 signaling pathway 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

101

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;

102

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

103

[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;

104

[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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

105

[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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

106

[1] PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

107

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

108

[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;

109

[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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

110

[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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

111

Human papillomavirus infection 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

112

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;

113

Human papillomavirus infection 💬

[1] PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

114

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

115

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

116

Huntington disease 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

117

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;

118

Hypertrophic cardiomyopathy 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

119

IL-17 signaling pathway 💬

[1] PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

120

Insulin resistance 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

121

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;

122

Insulin resistance 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

123

Insulin signaling pathway 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

124

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;

125

Insulin signaling pathway 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

126

JAK-STAT signaling pathway 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

127

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;

128

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

129

[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;

130

[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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

131

[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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

132

[1] PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

133

Leishmaniasis 💬

[1] PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

134

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

135

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

136

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

137

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

138

Longevity regulating pathway 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

139

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;

140

Longevity regulating pathway 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

141

Longevity regulating pathway - multiple species 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

142

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;

143

Longevity regulating pathway - multiple species 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

144

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

145

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

146

Metabolic pathways 💬

[1] ABAT 💬

Vigabatrin 💬

[2] 145, 158 💬

147

Metabolic pathways 💬

[1] HMGCR 💬

Simvastatin 💬

[21] 6 , 13, 15, 34, 46, 49, 51, 66, 79, 86, 89, 94, 158, 160, 162, 195, 265, 288, 298, 299, 310 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
34	Neurofibromatosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
79	Homozygous familial hypercholesterolemia;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
94	Primary sclerosing cholangitis;PSC;
158	Tuberous sclerosis;Tuberous sclerosis complex;
160	Congenital ichthyosis;
162	Pemphigoid;
195	Noonan syndrome;
265	Lipodystrophy;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;
298	Hereditary pancreatitis;Chronic pancreatitis;
299	Cystic fibrosis;
310	Congenital anomalies syndrome;

148

Metabolic pathways 💬

[2] PTGS1, PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

149

MicroRNAs in cancer 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

150

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;

151

MicroRNAs in cancer 💬

[1] PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

152

Mineral absorption 💬

[1] VDR 💬

Calcitriol 💬

[9] 18, 37, 46, 49, 66, 96, 158, 235, 326 💬

Disease ID	Name
18	Spinocerebellar degeneration;SCD;
37	Generalised pustular psoriasis;Pustular psoriasis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
96	Crohn disease;Terminal ileitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
326	Osteopetrosis;

153

Morphine addiction 💬

[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬

Name	Full Name
GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1
GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2
GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3
GABRA4	gamma-aminobutyric acid type A receptor subunit alpha4
GABRA5	gamma-aminobutyric acid type A receptor subunit alpha5
GABRA6	gamma-aminobutyric acid type A receptor subunit alpha6
GABRB1	gamma-aminobutyric acid type A receptor subunit beta1
GABRB2	gamma-aminobutyric acid type A receptor subunit beta2
GABRB3	gamma-aminobutyric acid type A receptor subunit beta3
GABRD	gamma-aminobutyric acid type A receptor subunit delta
GABRE	gamma-aminobutyric acid type A receptor subunit epsilon
GABRG1	gamma-aminobutyric acid type A receptor subunit gamma1
GABRG2	gamma-aminobutyric acid type A receptor subunit gamma2
GABRG3	gamma-aminobutyric acid type A receptor subunit gamma3
GABRP	gamma-aminobutyric acid type A receptor subunit pi
GABRQ	gamma-aminobutyric acid type A receptor subunit theta

Ganaxolone 💬

[4] 145, 152, 158, 206 💬

Disease ID	Name
145	West syndrome;Infantile spasm;
152	PCDH19 related syndrome;PCDH19 Epilepsy;Epilepsy and mental retardation limited to females;PCDH19 female pediatric epilepsy;PCDH19-related epilepsy;Protocadherin 19 (PCDH19)-related epilepsy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;

154

mTOR signaling pathway 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

155

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;

156

mTOR signaling pathway 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

157

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

158

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

159

Neuroactive ligand-receptor interaction 💬

[3] ADRB1, ADRB2, ADRB3 💬

Propranolol 💬

[6] 6 , 158, 167, 227, 278, 296 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
158	Tuberous sclerosis;Tuberous sclerosis complex;
167	Marfan syndrome;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;
296	Biliary atresia;

160

Neuroactive ligand-receptor interaction 💬

[2] CNR1, CNR2 💬

Cannabidiol 💬

[20] 2 , 6 , 8 , 13, 36, 46, 51, 95, 96, 97, 140, 144, 145, 156, 157, 158, 193, 206, 226, 271 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
51	Scleroderma;Systemic sclerosis;SSc;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
140	Dorabe syndrome;Dravet syndrome;
144	Lennox-Gastaut syndrome;
145	West syndrome;Infantile spasm;
156	Rett syndrome;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
193	Prader-Willi syndrome;
206	Fragile X syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;

161

Neuroactive ligand-receptor interaction 💬

[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬

Name	Full Name
GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1
GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2
GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3
GABRA4	gamma-aminobutyric acid type A receptor subunit alpha4
GABRA5	gamma-aminobutyric acid type A receptor subunit alpha5
GABRA6	gamma-aminobutyric acid type A receptor subunit alpha6
GABRB1	gamma-aminobutyric acid type A receptor subunit beta1
GABRB2	gamma-aminobutyric acid type A receptor subunit beta2
GABRB3	gamma-aminobutyric acid type A receptor subunit beta3
GABRD	gamma-aminobutyric acid type A receptor subunit delta
GABRE	gamma-aminobutyric acid type A receptor subunit epsilon
GABRG1	gamma-aminobutyric acid type A receptor subunit gamma1
GABRG2	gamma-aminobutyric acid type A receptor subunit gamma2
GABRG3	gamma-aminobutyric acid type A receptor subunit gamma3
GABRP	gamma-aminobutyric acid type A receptor subunit pi
GABRQ	gamma-aminobutyric acid type A receptor subunit theta

Ganaxolone 💬

[4] 145, 152, 158, 206 💬

Disease ID	Name
145	West syndrome;Infantile spasm;
152	PCDH19 related syndrome;PCDH19 Epilepsy;Epilepsy and mental retardation limited to females;PCDH19 female pediatric epilepsy;PCDH19-related epilepsy;Protocadherin 19 (PCDH19)-related epilepsy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;

162

Neutrophil extracellular trap formation 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

163

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;

164

NF-kappa B signaling pathway 💬

[1] PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

165

Nicotine addiction 💬

[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬

Name	Full Name
GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1
GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2
GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3
GABRA4	gamma-aminobutyric acid type A receptor subunit alpha4
GABRA5	gamma-aminobutyric acid type A receptor subunit alpha5
GABRA6	gamma-aminobutyric acid type A receptor subunit alpha6
GABRB1	gamma-aminobutyric acid type A receptor subunit beta1
GABRB2	gamma-aminobutyric acid type A receptor subunit beta2
GABRB3	gamma-aminobutyric acid type A receptor subunit beta3
GABRD	gamma-aminobutyric acid type A receptor subunit delta
GABRE	gamma-aminobutyric acid type A receptor subunit epsilon
GABRG1	gamma-aminobutyric acid type A receptor subunit gamma1
GABRG2	gamma-aminobutyric acid type A receptor subunit gamma2
GABRG3	gamma-aminobutyric acid type A receptor subunit gamma3
GABRP	gamma-aminobutyric acid type A receptor subunit pi
GABRQ	gamma-aminobutyric acid type A receptor subunit theta

Ganaxolone 💬

[4] 145, 152, 158, 206 💬

Disease ID	Name
145	West syndrome;Infantile spasm;
152	PCDH19 related syndrome;PCDH19 Epilepsy;Epilepsy and mental retardation limited to females;PCDH19 female pediatric epilepsy;PCDH19-related epilepsy;Protocadherin 19 (PCDH19)-related epilepsy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;

166

Non-alcoholic fatty liver disease 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

167

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

168

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

169

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

170

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

171

Ovarian steroidogenesis 💬

[1] PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

172

[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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

173

[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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

174

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

175

[1] PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

176

Pancreatic cancer 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

177

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;

178

Pancreatic secretion 💬

[1] SLC12A2 💬

Bumetanide 💬

Bumetanide

[2] 6 , 158 💬

179

Parathyroid hormone synthesis, secretion and action 💬

[1] VDR 💬

Calcitriol 💬

[9] 18, 37, 46, 49, 66, 96, 158, 235, 326 💬

Disease ID	Name
18	Spinocerebellar degeneration;SCD;
37	Generalised pustular psoriasis;Pustular psoriasis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
96	Crohn disease;Terminal ileitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
326	Osteopetrosis;

180

Pathways in cancer 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

181

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;

182

Pathways in cancer 💬

[1] PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

183

Pathways of neurodegeneration - multiple diseases 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

184

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;

185

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

186

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

187

Pathways of neurodegeneration - multiple diseases 💬

[1] PTGS2 💬

Aspirin 💬

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

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

188

[1] MTOR 💬

Everolimus 💬

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

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

189

[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;

190

[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

Tacrolimus 💬

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

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

191

[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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

192

Phospholipase D signaling pathway 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

193

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;

194

PI3K-Akt signaling pathway 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

195

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;

196

PI3K-Akt signaling pathway 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

197

Platelet activation 💬

[1] PTGS1 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

198

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

199

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

200

Propanoate metabolism 💬

[1] ABAT 💬

Vigabatrin 💬

[2] 145, 158 💬

201

Prostate cancer 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

202

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;

203

Proteoglycans in cancer 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

204

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;

205

Rap1 signaling pathway 💬

[1] CNR1 💬

Cannabidiol 💬

[20] 2 , 6 , 8 , 13, 36, 46, 51, 95, 96, 97, 140, 144, 145, 156, 157, 158, 193, 206, 226, 271 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
51	Scleroderma;Systemic sclerosis;SSc;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
140	Dorabe syndrome;Dravet syndrome;
144	Lennox-Gastaut syndrome;
145	West syndrome;Infantile spasm;
156	Rett syndrome;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
193	Prader-Willi syndrome;
206	Fragile X syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;

206

Regulation of lipolysis in adipocytes 💬

[3] ADRB1, ADRB2, ADRB3 💬

Propranolol 💬

[6] 6 , 158, 167, 227, 278, 296 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
158	Tuberous sclerosis;Tuberous sclerosis complex;
167	Marfan syndrome;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;
296	Biliary atresia;

207

Regulation of lipolysis in adipocytes 💬

[2] PTGS1, PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

208

Renin secretion 💬

[3] ADRB1, ADRB2, ADRB3 💬

Propranolol 💬

[6] 6 , 158, 167, 227, 278, 296 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
158	Tuberous sclerosis;Tuberous sclerosis complex;
167	Marfan syndrome;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;
296	Biliary atresia;

209

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

210

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

211

Retrograde endocannabinoid signaling 💬

[1] CNR1 💬

Cannabidiol 💬

[20] 2 , 6 , 8 , 13, 36, 46, 51, 95, 96, 97, 140, 144, 145, 156, 157, 158, 193, 206, 226, 271 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
51	Scleroderma;Systemic sclerosis;SSc;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
140	Dorabe syndrome;Dravet syndrome;
144	Lennox-Gastaut syndrome;
145	West syndrome;Infantile spasm;
156	Rett syndrome;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
193	Prader-Willi syndrome;
206	Fragile X syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;

212

Retrograde endocannabinoid signaling 💬

[16] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ 💬

Name	Full Name
GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1
GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2
GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3
GABRA4	gamma-aminobutyric acid type A receptor subunit alpha4
GABRA5	gamma-aminobutyric acid type A receptor subunit alpha5
GABRA6	gamma-aminobutyric acid type A receptor subunit alpha6
GABRB1	gamma-aminobutyric acid type A receptor subunit beta1
GABRB2	gamma-aminobutyric acid type A receptor subunit beta2
GABRB3	gamma-aminobutyric acid type A receptor subunit beta3
GABRD	gamma-aminobutyric acid type A receptor subunit delta
GABRE	gamma-aminobutyric acid type A receptor subunit epsilon
GABRG1	gamma-aminobutyric acid type A receptor subunit gamma1
GABRG2	gamma-aminobutyric acid type A receptor subunit gamma2
GABRG3	gamma-aminobutyric acid type A receptor subunit gamma3
GABRP	gamma-aminobutyric acid type A receptor subunit pi
GABRQ	gamma-aminobutyric acid type A receptor subunit theta

Ganaxolone 💬

[4] 145, 152, 158, 206 💬

Disease ID	Name
145	West syndrome;Infantile spasm;
152	PCDH19 related syndrome;PCDH19 Epilepsy;Epilepsy and mental retardation limited to females;PCDH19 female pediatric epilepsy;PCDH19-related epilepsy;Protocadherin 19 (PCDH19)-related epilepsy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;

213

Retrograde endocannabinoid signaling 💬

[1] PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

214

Salivary secretion 💬

[3] ADRB1, ADRB2, ADRB3 💬

Propranolol 💬

[6] 6 , 158, 167, 227, 278, 296 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
158	Tuberous sclerosis;Tuberous sclerosis complex;
167	Marfan syndrome;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;
296	Biliary atresia;

215

Salivary secretion 💬

[1] SLC12A2 💬

Bumetanide 💬

Bumetanide

[2] 6 , 158 💬

216

Serotonergic synapse 💬

[3] GABRB1, GABRB2, GABRB3 💬

Ganaxolone 💬

[4] 145, 152, 158, 206 💬

Disease ID	Name
145	West syndrome;Infantile spasm;
152	PCDH19 related syndrome;PCDH19 Epilepsy;Epilepsy and mental retardation limited to females;PCDH19 female pediatric epilepsy;PCDH19-related epilepsy;Protocadherin 19 (PCDH19)-related epilepsy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;

217

Serotonergic synapse 💬

[2] PTGS1, PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

218

Shigellosis 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

219

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;

220

Small cell lung cancer 💬

[1] PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

221

Spinocerebellar ataxia 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

222

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;

223

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

224

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

225

Taste transduction 💬

[6] GABRA1, GABRA2, GABRA3, GABRA4, GABRA5, GABRA6 💬

Name	Full Name
GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1
GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2
GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3
GABRA4	gamma-aminobutyric acid type A receptor subunit alpha4
GABRA5	gamma-aminobutyric acid type A receptor subunit alpha5
GABRA6	gamma-aminobutyric acid type A receptor subunit alpha6

Ganaxolone 💬

[4] 145, 152, 158, 206 💬

Disease ID	Name
145	West syndrome;Infantile spasm;
152	PCDH19 related syndrome;PCDH19 Epilepsy;Epilepsy and mental retardation limited to females;PCDH19 female pediatric epilepsy;PCDH19-related epilepsy;Protocadherin 19 (PCDH19)-related epilepsy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;

226

Terpenoid backbone biosynthesis 💬

[1] HMGCR 💬

Simvastatin 💬

[21] 6 , 13, 15, 34, 46, 49, 51, 66, 79, 86, 89, 94, 158, 160, 162, 195, 265, 288, 298, 299, 310 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
15	Inclusion body myositis;
34	Neurofibromatosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
79	Homozygous familial hypercholesterolemia;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
94	Primary sclerosing cholangitis;PSC;
158	Tuberous sclerosis;Tuberous sclerosis complex;
160	Congenital ichthyosis;
162	Pemphigoid;
195	Noonan syndrome;
265	Lipodystrophy;
288	Autoimmune acquired coagulation factor deficiency;Coagulation factor deficiency;
298	Hereditary pancreatitis;Chronic pancreatitis;
299	Cystic fibrosis;
310	Congenital anomalies syndrome;

227

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

228

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

229

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

230

[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;

231

[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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

232

[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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

233

Thermogenesis 💬

[1] ADRB3 💬

Propranolol 💬

[6] 6 , 158, 167, 227, 278, 296 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
158	Tuberous sclerosis;Tuberous sclerosis complex;
167	Marfan syndrome;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
278	Huge lymphatic malformation with cervicofacial lesion;Huge lymphatic malformation;Lymphatic malformation;
296	Biliary atresia;

234

Thermogenesis 💬

[1] CNR1 💬

Cannabidiol 💬

[20] 2 , 6 , 8 , 13, 36, 46, 51, 95, 96, 97, 140, 144, 145, 156, 157, 158, 193, 206, 226, 271 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
51	Scleroderma;Systemic sclerosis;SSc;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
140	Dorabe syndrome;Dravet syndrome;
144	Lennox-Gastaut syndrome;
145	West syndrome;Infantile spasm;
156	Rett syndrome;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
193	Prader-Willi syndrome;
206	Fragile X syndrome;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;

235

Thermogenesis 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

236

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;

237

Thermogenesis 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

238

Thyroid hormone signaling pathway 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

239

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;

240

Tight junction 💬

[2] PRKAA1, PRKAA2 💬

Metformin 💬

[25] 2 , 6 , 8 , 13, 46, 49, 60, 65, 67, 75, 77, 81, 86, 97, 113, 127, 158, 206, 218, 225, 233, 265, 285, 299, 301 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
8	Huntington disease;Huntington chorea;
13	Multiple sclerosis/Neuromyelitis optica;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
60	Aplastic anemia;
65	Primary immunodeficiency;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
75	Cushing disease;Cushing;
77	Growth hormone secreting pituitary adenoma;Pituitary growth hormone secretion hyperthyroidism;
81	Congenital adrenal hyperplasia;CAH;Congenital adrenal enzyme deficiency;Congenial adrenal cortex enzyme deficiency;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
127	Frontotemporal lobar degeneration;
158	Tuberous sclerosis;Tuberous sclerosis complex;
206	Fragile X syndrome;
218	Alport syndrome;
225	Congenital nephrogenic diabetes insipidus;Hereditary nephrogenic diabetes insipidus;Nephrogenic diabetes insipidus;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
265	Lipodystrophy;
285	Fanconi anemia;
299	Cystic fibrosis;
301	Macular dystrophy;

241

TNF signaling pathway 💬

[1] PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

242

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

243

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

244

Tuberculosis 💬

[1] VDR 💬

Calcitriol 💬

[9] 18, 37, 46, 49, 66, 96, 158, 235, 326 💬

Disease ID	Name
18	Spinocerebellar degeneration;SCD;
37	Generalised pustular psoriasis;Pustular psoriasis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
96	Crohn disease;Terminal ileitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
235	Hypoparathyroidism;Accessory thyroid hypergasia disease;
326	Osteopetrosis;

245

Type II diabetes mellitus 💬

[1] MTOR 💬

Everolimus 💬

[9] 34, 67, 89, 96, 137, 157, 158, 228, 277 💬

Disease ID	Name
34	Neurofibromatosis;
67	Polycystic kidney disease;PKD;PCKD;Polycystic kidney;
89	Lymphangioleiomyomatosis;LAM;
96	Crohn disease;Terminal ileitis;
137	Focal cortical dysplasia;FCD;
157	Sturge-Weber syndrome;Síndrome de Sturge-Weber;
158	Tuberous sclerosis;Tuberous sclerosis complex;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
277	Lymphangiomatosis;Generalized lymphatic anomaly;Gorham disease;Gorham-Stout disease;Diffuse lymphangiomatosis;Mass osteolysis;

246

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;

247

Valine, leucine and isoleucine degradation 💬

[1] ABAT 💬

Vigabatrin 💬

[2] 145, 158 💬

248

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

249

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

250

VEGF signaling pathway 💬

[1] PTGS2 💬

Aspirin 💬

[14] 13, 22, 46, 49, 51, 58, 64, 86, 97, 113, 158, 210, 231, 251 💬

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
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;
64	Thrombotic thrombocytopenic purpura;TTP;
86	Pulmonary arterial hypertension;PAH;
97	Ulcerative colitis;
113	Muscular dystrophy;
158	Tuberous sclerosis;Tuberous sclerosis complex;
210	Single Ventricle;SV;Single ventricle heart defect;Univentricular heart;UVH;Single ventricular circulation syndrome;
231	Alpha-1-antitrypsin deficiency;AATD;
251	Urea cycle disorder;

251

Vibrio cholerae infection 💬

[1] SLC12A2 💬

Bumetanide 💬

Bumetanide

[2] 6 , 158 💬

252

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

Tacrolimus 💬

[34] 2 , 6 , 11, 13, 36, 46, 49, 50, 51, 53, 56, 60, 61, 62, 65, 66, 85, 95, 96, 97, 113, 151, 158, 164, 222, 224, 226, 227, 228, 283, 284, 285, 286, 299 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
36	Epidermolysis bullosa;
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;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
61	Autoimmune hemolytic anemia;AIHA;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
66	IgA nephropathy;IgA nephritis;Berger disease;IgA-IgG nephropathy;
85	Idiopathic interstitial pneumonia;IIPs;
95	Autoimmune hepatitis;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
113	Muscular dystrophy;
151	Rasmussen encephalitis;
158	Tuberous sclerosis;Tuberous sclerosis complex;
164	Oculocutaneous albinism;
222	Primary nephrotic syndrome;
224	Purpura nephritis;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
227	Osler disease;Hereditary hemorrhagic telangiectasia;Osler-Weber-Rendu disease;
228	Bronchiolitis obliterans;Obliterating bronchiolitis;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
286	Hereditary sideroblastic anemia;Congenital sideroblastic anemia;Sideroblastic anemia;
299	Cystic fibrosis;

253

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

Tacrolimus 💬