Gene

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

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

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;

[1] ADRB2 💬

Clenbuterol 💬

[5] 1 , 2 , 6 , 13, 256 💬

Disease ID	Name
1	Spinal and bulbar muscular atrophy;Spinobulbar muscular atrophy;SBMA;Kennedy disease;Kennedy-Alter-Sung syndrome;
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

[1] ADRB2 💬

Albuterol 💬

[12] 3 , 11, 12, 13, 49, 85, 86, 89, 111, 113, 256, 299 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
11	Myasthenia gravis;MG;
12	Congenital myasthenic syndrome;
13	Multiple sclerosis/Neuromyelitis optica;
49	Systemic lupus erythematosus;SLE;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
111	Congenital myopathy;
113	Muscular dystrophy;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
299	Cystic fibrosis;

[1] SCN5A 💬

Lidocaine 💬

[13] 6 , 13, 22, 34, 46, 51, 70, 84, 86, 107, 168, 226, 256 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
34	Neurofibromatosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
107	Juvenile idiopathic arthritis;JIA;
168	Ehlers-Danlos syndrome;EDS;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

[1] SCN5A 💬

Lidocaine hydrochloride monohydrate 💬

Name	Other Names
Lidocaine hydrochloride monohydrate	Lidocaine hydrochloride monohydrate Lidocaine (TN) Zingo (TN) 1% LIDOCAINE HCI 2% LIDOCAINE HCI LIDENZAL 1% LIDENZAL 2% LIDOCAINE HCI LIDOCAINE HCL LIDOCAINE HYDROCHLORIDE NA PRELIDOPINE PRE-OPERATIVE SYSTEM

[13] 6 , 13, 22, 34, 46, 51, 70, 84, 86, 107, 168, 226, 256 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
34	Neurofibromatosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
107	Juvenile idiopathic arthritis;JIA;
168	Ehlers-Danlos syndrome;EDS;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

Alanine, aspartate and glutamate metabolism 💬

[4] ABAT, ALDH5A1, GAD1, GAD2 💬

[14] 2 , 3 , 5 , 6 , 13, 26, 65, 85, 90, 102, 127, 222, 233, 256 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
90	Retinitis pigmentosa;
102	Rubinstein-Taybi syndrome;RSTS;Histone acetylation disorder;
127	Frontotemporal lobar degeneration;
222	Primary nephrotic syndrome;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

Aldosterone synthesis and secretion 💬

[3] CACNA1G, CACNA1H, CACNA1I 💬

[14] 2 , 3 , 5 , 6 , 13, 26, 65, 85, 90, 102, 127, 222, 233, 256 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
90	Retinitis pigmentosa;
102	Rubinstein-Taybi syndrome;RSTS;Histone acetylation disorder;
127	Frontotemporal lobar degeneration;
222	Primary nephrotic syndrome;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

Alzheimer disease 💬

[1] MTOR 💬

Sirolimus 💬

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

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

Alzheimer disease 💬

[1] PSMB5 💬

Bortezomib 💬

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

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

Alzheimer disease 💬

[1] PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

AMPK signaling pathway 💬

[1] MTOR 💬

Sirolimus 💬

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

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

Amyotrophic lateral sclerosis 💬

[1] MTOR 💬

Sirolimus 💬

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

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

Amyotrophic lateral sclerosis 💬

[1] PSMB5 💬

Bortezomib 💬

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

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

Antifolate resistance 💬

[2] DHFR, DHFR2 💬

Methotrexate 💬

[38] 11, 13, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 55, 56, 60, 62, 65, 84, 93, 96, 97, 107, 162, 164, 172, 256, 270, 271, 283, 284, 285, 286, 326, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
162	Pemphigoid;
164	Oculocutaneous albinism;
172	Hypophosphatasia;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
270	Chronic recurrent multifocal osteomyelitis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
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;
326	Osteopetrosis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Apelin signaling pathway 💬

[1] MTOR 💬

Sirolimus 💬

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

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

Arachidonic acid metabolism 💬

[2] PTGS1, PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

Autophagy - animal 💬

[1] MTOR 💬

Sirolimus 💬

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

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

Autophagy - other 💬

[1] MTOR 💬

Sirolimus 💬

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

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

beta-Alanine metabolism 💬

[3] ABAT, GAD1, GAD2 💬

[14] 2 , 3 , 5 , 6 , 13, 26, 65, 85, 90, 102, 127, 222, 233, 256 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
90	Retinitis pigmentosa;
102	Rubinstein-Taybi syndrome;RSTS;Histone acetylation disorder;
127	Frontotemporal lobar degeneration;
222	Primary nephrotic syndrome;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

Biosynthesis of cofactors 💬

[2] DHFR, DHFR2 💬

Methotrexate 💬

[38] 11, 13, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 55, 56, 60, 62, 65, 84, 93, 96, 97, 107, 162, 164, 172, 256, 270, 271, 283, 284, 285, 286, 326, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
162	Pemphigoid;
164	Oculocutaneous albinism;
172	Hypophosphatasia;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
270	Chronic recurrent multifocal osteomyelitis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
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;
326	Osteopetrosis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

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 💬

[4] ABAT, ALDH5A1, GAD1, GAD2 💬

[14] 2 , 3 , 5 , 6 , 13, 26, 65, 85, 90, 102, 127, 222, 233, 256 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
90	Retinitis pigmentosa;
102	Rubinstein-Taybi syndrome;RSTS;Histone acetylation disorder;
127	Frontotemporal lobar degeneration;
222	Primary nephrotic syndrome;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

C-type lectin receptor signaling pathway 💬

[1] PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

[1] ADRB2 💬

Clenbuterol 💬

[5] 1 , 2 , 6 , 13, 256 💬

Disease ID	Name
1	Spinal and bulbar muscular atrophy;Spinobulbar muscular atrophy;SBMA;Kennedy disease;Kennedy-Alter-Sung syndrome;
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

[1] ADRB2 💬

Albuterol 💬

[12] 3 , 11, 12, 13, 49, 85, 86, 89, 111, 113, 256, 299 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
11	Myasthenia gravis;MG;
12	Congenital myasthenic syndrome;
13	Multiple sclerosis/Neuromyelitis optica;
49	Systemic lupus erythematosus;SLE;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
111	Congenital myopathy;
113	Muscular dystrophy;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
299	Cystic fibrosis;

[3] CACNA1G, CACNA1H, CACNA1I 💬

[14] 2 , 3 , 5 , 6 , 13, 26, 65, 85, 90, 102, 127, 222, 233, 256 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
90	Retinitis pigmentosa;
102	Rubinstein-Taybi syndrome;RSTS;Histone acetylation disorder;
127	Frontotemporal lobar degeneration;
222	Primary nephrotic syndrome;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

[1] HRH1 💬

Diphenhydramine 💬

Diphenhydramine

[8] 11, 13, 49, 51, 70, 86, 222, 256 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

cAMP signaling pathway 💬

[1] ADRB2 💬

Clenbuterol 💬

[5] 1 , 2 , 6 , 13, 256 💬

Disease ID	Name
1	Spinal and bulbar muscular atrophy;Spinobulbar muscular atrophy;SBMA;Kennedy disease;Kennedy-Alter-Sung syndrome;
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

cAMP signaling pathway 💬

[1] ADRB2 💬

Albuterol 💬

[12] 3 , 11, 12, 13, 49, 85, 86, 89, 111, 113, 256, 299 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
11	Myasthenia gravis;MG;
12	Congenital myasthenic syndrome;
13	Multiple sclerosis/Neuromyelitis optica;
49	Systemic lupus erythematosus;SLE;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
111	Congenital myopathy;
113	Muscular dystrophy;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
299	Cystic fibrosis;

Cellular senescence 💬

[1] MTOR 💬

Sirolimus 💬

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

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

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 💬

[1] ADRB2 💬

Clenbuterol 💬

[5] 1 , 2 , 6 , 13, 256 💬

Disease ID	Name
1	Spinal and bulbar muscular atrophy;Spinobulbar muscular atrophy;SBMA;Kennedy disease;Kennedy-Alter-Sung syndrome;
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

cGMP-PKG signaling pathway 💬

[1] ADRB2 💬

Albuterol 💬

[12] 3 , 11, 12, 13, 49, 85, 86, 89, 111, 113, 256, 299 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
11	Myasthenia gravis;MG;
12	Congenital myasthenic syndrome;
13	Multiple sclerosis/Neuromyelitis optica;
49	Systemic lupus erythematosus;SLE;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
111	Congenital myopathy;
113	Muscular dystrophy;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
299	Cystic fibrosis;

Chemical carcinogenesis - DNA adducts 💬

[1] PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

Chemical carcinogenesis - receptor activation 💬

[1] ADRB2 💬

Clenbuterol 💬

[5] 1 , 2 , 6 , 13, 256 💬

Disease ID	Name
1	Spinal and bulbar muscular atrophy;Spinobulbar muscular atrophy;SBMA;Kennedy disease;Kennedy-Alter-Sung syndrome;
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

Chemical carcinogenesis - receptor activation 💬

[1] ADRB2 💬

Albuterol 💬

[12] 3 , 11, 12, 13, 49, 85, 86, 89, 111, 113, 256, 299 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
11	Myasthenia gravis;MG;
12	Congenital myasthenic syndrome;
13	Multiple sclerosis/Neuromyelitis optica;
49	Systemic lupus erythematosus;SLE;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
111	Congenital myopathy;
113	Muscular dystrophy;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
299	Cystic fibrosis;

Chemical carcinogenesis - receptor activation 💬

[1] MTOR 💬

Sirolimus 💬

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

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

Choline metabolism in cancer 💬

[1] MTOR 💬

Sirolimus 💬

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

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

Circadian entrainment 💬

[3] CACNA1G, CACNA1H, CACNA1I 💬

[14] 2 , 3 , 5 , 6 , 13, 26, 65, 85, 90, 102, 127, 222, 233, 256 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
90	Retinitis pigmentosa;
102	Rubinstein-Taybi syndrome;RSTS;Histone acetylation disorder;
127	Frontotemporal lobar degeneration;
222	Primary nephrotic syndrome;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

Colorectal cancer 💬

[1] MTOR 💬

Sirolimus 💬

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

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

Cortisol synthesis and secretion 💬

[3] CACNA1G, CACNA1H, CACNA1I 💬

[14] 2 , 3 , 5 , 6 , 13, 26, 65, 85, 90, 102, 127, 222, 233, 256 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
90	Retinitis pigmentosa;
102	Rubinstein-Taybi syndrome;RSTS;Histone acetylation disorder;
127	Frontotemporal lobar degeneration;
222	Primary nephrotic syndrome;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

Cushing syndrome 💬

[3] CACNA1G, CACNA1H, CACNA1I 💬

[14] 2 , 3 , 5 , 6 , 13, 26, 65, 85, 90, 102, 127, 222, 233, 256 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
90	Retinitis pigmentosa;
102	Rubinstein-Taybi syndrome;RSTS;Histone acetylation disorder;
127	Frontotemporal lobar degeneration;
222	Primary nephrotic syndrome;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

Cytokine-cytokine receptor interaction 💬

[1] CSF3R 💬

Filgrastim 💬

Name	Other Names
Filgrastim	Filgrastim (USP/INN) Filgrastim (genetical recombination) (JP18) Filgrastim (genetical recombination) [Filgrastim biosimilar 1] (JAN) Tbo-filgrastim Filgrastim (genetical recombination) [Filgrastim biosimilar 2] (JAN) Filgrastim (genetical recombination) [Filgrastim biosimilar 3] (JAN) Filgrastim-sndz Filgrastim-aafi Neupogen (TN) Nivestym (TN) Grastofil (TN) Zarxio (TN) GRANIX RELEUKO

[35] 2 , 6 , 11, 13, 16, 22, 25, 26, 28, 34, 35, 36, 38, 40, 41, 42, 45, 46, 47, 49, 51, 57, 60, 62, 65, 85, 96, 113, 164, 256, 283, 284, 285, 296, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
16	Crow-Fukase syndrome;POEMS syndrome;
22	Moyamoya disease;Occlusive disease in circle of Willis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
38	Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
47	Buerger disease;Thromboangiitis obliterans;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
57	Idiopathic dilated cardiomyopathy;
60	Aplastic anemia;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
96	Crohn disease;Terminal ileitis;
113	Muscular dystrophy;
164	Oculocutaneous albinism;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
296	Biliary atresia;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

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;

Dopaminergic synapse 💬

[1] SCN1A 💬

Lidocaine 💬

[13] 6 , 13, 22, 34, 46, 51, 70, 84, 86, 107, 168, 226, 256 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
34	Neurofibromatosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
107	Juvenile idiopathic arthritis;JIA;
168	Ehlers-Danlos syndrome;EDS;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

Dopaminergic synapse 💬

[1] SCN1A 💬

Lidocaine hydrochloride monohydrate 💬

Name	Other Names
Lidocaine hydrochloride monohydrate	Lidocaine hydrochloride monohydrate Lidocaine (TN) Zingo (TN) 1% LIDOCAINE HCI 2% LIDOCAINE HCI LIDENZAL 1% LIDENZAL 2% LIDOCAINE HCI LIDOCAINE HCL LIDOCAINE HYDROCHLORIDE NA PRELIDOPINE PRE-OPERATIVE SYSTEM

[13] 6 , 13, 22, 34, 46, 51, 70, 84, 86, 107, 168, 226, 256 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
34	Neurofibromatosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
107	Juvenile idiopathic arthritis;JIA;
168	Ehlers-Danlos syndrome;EDS;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

EGFR tyrosine kinase inhibitor 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;

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 💬

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;

Folate biosynthesis 💬

[2] DHFR, DHFR2 💬

Methotrexate 💬

[38] 11, 13, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 55, 56, 60, 62, 65, 84, 93, 96, 97, 107, 162, 164, 172, 256, 270, 271, 283, 284, 285, 286, 326, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
162	Pemphigoid;
164	Oculocutaneous albinism;
172	Hypophosphatasia;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
270	Chronic recurrent multifocal osteomyelitis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
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;
326	Osteopetrosis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

GABAergic synapse 💬

[3] ABAT, GAD1, GAD2 💬

[14] 2 , 3 , 5 , 6 , 13, 26, 65, 85, 90, 102, 127, 222, 233, 256 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
90	Retinitis pigmentosa;
102	Rubinstein-Taybi syndrome;RSTS;Histone acetylation disorder;
127	Frontotemporal lobar degeneration;
222	Primary nephrotic syndrome;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

[1] GAA 💬

[1] 256 💬

[1] GAA 💬

[1] 256 💬

[1] GAA 💬

[1] 256 💬

[1] GAA 💬

Duvoglustat 💬

[1] 256 💬

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 💬

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;

Glycosaminoglycan degradation 💬

[1] IDUA 💬

Laronidase 💬

Laronidase

[2] 19, 256 💬

GnRH secretion 💬

[3] CACNA1G, CACNA1H, CACNA1I 💬

[14] 2 , 3 , 5 , 6 , 13, 26, 65, 85, 90, 102, 127, 222, 233, 256 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
90	Retinitis pigmentosa;
102	Rubinstein-Taybi syndrome;RSTS;Histone acetylation disorder;
127	Frontotemporal lobar degeneration;
222	Primary nephrotic syndrome;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

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;

Hematopoietic cell lineage 💬

[1] CSF3R 💬

Filgrastim 💬

Name	Other Names
Filgrastim	Filgrastim (USP/INN) Filgrastim (genetical recombination) (JP18) Filgrastim (genetical recombination) [Filgrastim biosimilar 1] (JAN) Tbo-filgrastim Filgrastim (genetical recombination) [Filgrastim biosimilar 2] (JAN) Filgrastim (genetical recombination) [Filgrastim biosimilar 3] (JAN) Filgrastim-sndz Filgrastim-aafi Neupogen (TN) Nivestym (TN) Grastofil (TN) Zarxio (TN) GRANIX RELEUKO

[35] 2 , 6 , 11, 13, 16, 22, 25, 26, 28, 34, 35, 36, 38, 40, 41, 42, 45, 46, 47, 49, 51, 57, 60, 62, 65, 85, 96, 113, 164, 256, 283, 284, 285, 296, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
16	Crow-Fukase syndrome;POEMS syndrome;
22	Moyamoya disease;Occlusive disease in circle of Willis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
38	Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
47	Buerger disease;Thromboangiitis obliterans;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
57	Idiopathic dilated cardiomyopathy;
60	Aplastic anemia;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
96	Crohn disease;Terminal ileitis;
113	Muscular dystrophy;
164	Oculocutaneous albinism;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
296	Biliary atresia;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

Hematopoietic cell lineage 💬

[1] MS4A1 💬

Rituximab 💬

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

Rituximab

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

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

Hepatocellular carcinoma 💬

[1] MTOR 💬

Sirolimus 💬

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

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

Herpes simplex virus 1 infection 💬

[1] MTOR 💬

Sirolimus 💬

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

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

HIF-1 signaling pathway 💬

[1] MTOR 💬

Sirolimus 💬

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

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

Human cytomegalovirus infection 💬

[1] MTOR 💬

Sirolimus 💬

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

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

Human cytomegalovirus infection 💬

[1] PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

Human immunodeficiency virus 1 infection 💬

[1] MTOR 💬

Sirolimus 💬

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

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

Human papillomavirus infection 💬

[1] MTOR 💬

Sirolimus 💬

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

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

Human papillomavirus infection 💬

[1] PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

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;

Huntington disease 💬

[1] PSMB5 💬

Bortezomib 💬

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

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

IL-17 signaling pathway 💬

[1] PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

Inflammatory mediator regulation of TRP channels 💬

[1] HRH1 💬

Diphenhydramine 💬

Diphenhydramine

[8] 11, 13, 49, 51, 70, 86, 222, 256 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

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;

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;

JAK-STAT signaling pathway 💬

[1] CSF3R 💬

Filgrastim 💬

Name	Other Names
Filgrastim	Filgrastim (USP/INN) Filgrastim (genetical recombination) (JP18) Filgrastim (genetical recombination) [Filgrastim biosimilar 1] (JAN) Tbo-filgrastim Filgrastim (genetical recombination) [Filgrastim biosimilar 2] (JAN) Filgrastim (genetical recombination) [Filgrastim biosimilar 3] (JAN) Filgrastim-sndz Filgrastim-aafi Neupogen (TN) Nivestym (TN) Grastofil (TN) Zarxio (TN) GRANIX RELEUKO

[35] 2 , 6 , 11, 13, 16, 22, 25, 26, 28, 34, 35, 36, 38, 40, 41, 42, 45, 46, 47, 49, 51, 57, 60, 62, 65, 85, 96, 113, 164, 256, 283, 284, 285, 296, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
16	Crow-Fukase syndrome;POEMS syndrome;
22	Moyamoya disease;Occlusive disease in circle of Willis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
38	Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
47	Buerger disease;Thromboangiitis obliterans;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
57	Idiopathic dilated cardiomyopathy;
60	Aplastic anemia;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
96	Crohn disease;Terminal ileitis;
113	Muscular dystrophy;
164	Oculocutaneous albinism;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
296	Biliary atresia;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

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;

Kaposi sarcoma-associated herpesvirus infection 💬

[1] MTOR 💬

Sirolimus 💬

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

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

Kaposi sarcoma-associated herpesvirus infection 💬

[1] PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

Leishmaniasis 💬

[1] PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

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;

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;

Lysosome 💬

[1] GAA 💬

[1] 256 💬

Lysosome 💬

[1] GAA 💬

[1] 256 💬

Lysosome 💬

[1] GAA 💬

[1] 256 💬

Lysosome 💬

[1] GAA 💬

Duvoglustat 💬

[1] 256 💬

Lysosome 💬

[1] IDUA 💬

Laronidase 💬

Laronidase

[2] 19, 256 💬

MAPK signaling pathway 💬

[3] CACNA1G, CACNA1H, CACNA1I 💬

[14] 2 , 3 , 5 , 6 , 13, 26, 65, 85, 90, 102, 127, 222, 233, 256 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
90	Retinitis pigmentosa;
102	Rubinstein-Taybi syndrome;RSTS;Histone acetylation disorder;
127	Frontotemporal lobar degeneration;
222	Primary nephrotic syndrome;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

[4] ABAT, ALDH5A1, GAD1, GAD2 💬

[14] 2 , 3 , 5 , 6 , 13, 26, 65, 85, 90, 102, 127, 222, 233, 256 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
90	Retinitis pigmentosa;
102	Rubinstein-Taybi syndrome;RSTS;Histone acetylation disorder;
127	Frontotemporal lobar degeneration;
222	Primary nephrotic syndrome;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

[2] DHFR, DHFR2 💬

Methotrexate 💬

[38] 11, 13, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 55, 56, 60, 62, 65, 84, 93, 96, 97, 107, 162, 164, 172, 256, 270, 271, 283, 284, 285, 286, 326, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
162	Pemphigoid;
164	Oculocutaneous albinism;
172	Hypophosphatasia;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
270	Chronic recurrent multifocal osteomyelitis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
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;
326	Osteopetrosis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

[1] GAA 💬

[1] 256 💬

[1] GAA 💬

[1] 256 💬

[1] GAA 💬

[1] 256 💬

[1] GAA 💬

Duvoglustat 💬

[1] 256 💬

[1] IDUA 💬

Laronidase 💬

Laronidase

[2] 19, 256 💬

[2] PTGS1, PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

[1] UGCG 💬

Miglustat 💬

Miglustat

[3] 19, 256, 299 💬

100

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;

101

MicroRNAs in cancer 💬

[1] PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

102

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;

103

Neuroactive ligand-receptor interaction 💬

[1] ADRB2 💬

Clenbuterol 💬

[5] 1 , 2 , 6 , 13, 256 💬

Disease ID	Name
1	Spinal and bulbar muscular atrophy;Spinobulbar muscular atrophy;SBMA;Kennedy disease;Kennedy-Alter-Sung syndrome;
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

104

Neuroactive ligand-receptor interaction 💬

[1] ADRB2 💬

Albuterol 💬

[12] 3 , 11, 12, 13, 49, 85, 86, 89, 111, 113, 256, 299 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
11	Myasthenia gravis;MG;
12	Congenital myasthenic syndrome;
13	Multiple sclerosis/Neuromyelitis optica;
49	Systemic lupus erythematosus;SLE;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
111	Congenital myopathy;
113	Muscular dystrophy;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
299	Cystic fibrosis;

105

Neuroactive ligand-receptor interaction 💬

[1] HRH1 💬

Diphenhydramine 💬

Diphenhydramine

[8] 11, 13, 49, 51, 70, 86, 222, 256 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

106

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;

107

NF-kappa B signaling pathway 💬

[1] PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

108

One carbon pool by folate 💬

[2] DHFR, DHFR2 💬

Methotrexate 💬

[38] 11, 13, 19, 34, 35, 40, 41, 42, 43, 44, 45, 46, 49, 50, 51, 53, 55, 56, 60, 62, 65, 84, 93, 96, 97, 107, 162, 164, 172, 256, 270, 271, 283, 284, 285, 286, 326, 331 💬

Disease ID	Name
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
19	Lysosomal storage disease;Lysosomal disease;
34	Neurofibromatosis;
35	Pemphigus;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
43	Microscopic polyangiitis;MPA;
44	Wegener granulomatosis;Multiple vasculitis granulomatous disease;Granulomatosis with polyangiitis;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
50	Dermatomyositis;Polymyositis;
51	Scleroderma;Systemic sclerosis;SSc;
53	Sjogren syndrome;Sjögren syndrome;Syndrome Sjogren's;SS;Autoimmune exocrinopathy;
55	Relapsing polychondritis;
56	Behcet disease;Behçet disease;BD;
60	Aplastic anemia;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
84	Sarcoidosis;
93	Primary biliary cholangitis;Primary biliary cirrhosis;PBC;
96	Crohn disease;Terminal ileitis;
97	Ulcerative colitis;
107	Juvenile idiopathic arthritis;JIA;
162	Pemphigoid;
164	Oculocutaneous albinism;
172	Hypophosphatasia;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
270	Chronic recurrent multifocal osteomyelitis;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
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;
326	Osteopetrosis;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

109

Ovarian steroidogenesis 💬

[1] PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

110

Oxytocin signaling pathway 💬

[1] PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

111

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;

112

Parkinson disease 💬

[1] PSMB5 💬

Bortezomib 💬

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

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

113

Pathways in cancer 💬

[1] CSF3R 💬

Filgrastim 💬

Name	Other Names
Filgrastim	Filgrastim (USP/INN) Filgrastim (genetical recombination) (JP18) Filgrastim (genetical recombination) [Filgrastim biosimilar 1] (JAN) Tbo-filgrastim Filgrastim (genetical recombination) [Filgrastim biosimilar 2] (JAN) Filgrastim (genetical recombination) [Filgrastim biosimilar 3] (JAN) Filgrastim-sndz Filgrastim-aafi Neupogen (TN) Nivestym (TN) Grastofil (TN) Zarxio (TN) GRANIX RELEUKO

[35] 2 , 6 , 11, 13, 16, 22, 25, 26, 28, 34, 35, 36, 38, 40, 41, 42, 45, 46, 47, 49, 51, 57, 60, 62, 65, 85, 96, 113, 164, 256, 283, 284, 285, 296, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
16	Crow-Fukase syndrome;POEMS syndrome;
22	Moyamoya disease;Occlusive disease in circle of Willis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
38	Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
47	Buerger disease;Thromboangiitis obliterans;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
57	Idiopathic dilated cardiomyopathy;
60	Aplastic anemia;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
96	Crohn disease;Terminal ileitis;
113	Muscular dystrophy;
164	Oculocutaneous albinism;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
296	Biliary atresia;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

114

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;

115

Pathways in cancer 💬

[1] PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

116

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;

117

Pathways of neurodegeneration - multiple diseases 💬

[1] PSMB5 💬

Bortezomib 💬

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

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

118

Pathways of neurodegeneration - multiple diseases 💬

[1] PTGS2 💬

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

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

119

[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;

120

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;

121

PI3K-Akt signaling pathway 💬

[1] CSF3R 💬

Filgrastim 💬

Name	Other Names
Filgrastim	Filgrastim (USP/INN) Filgrastim (genetical recombination) (JP18) Filgrastim (genetical recombination) [Filgrastim biosimilar 1] (JAN) Tbo-filgrastim Filgrastim (genetical recombination) [Filgrastim biosimilar 2] (JAN) Filgrastim (genetical recombination) [Filgrastim biosimilar 3] (JAN) Filgrastim-sndz Filgrastim-aafi Neupogen (TN) Nivestym (TN) Grastofil (TN) Zarxio (TN) GRANIX RELEUKO

[35] 2 , 6 , 11, 13, 16, 22, 25, 26, 28, 34, 35, 36, 38, 40, 41, 42, 45, 46, 47, 49, 51, 57, 60, 62, 65, 85, 96, 113, 164, 256, 283, 284, 285, 296, 331 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
16	Crow-Fukase syndrome;POEMS syndrome;
22	Moyamoya disease;Occlusive disease in circle of Willis;
25	Progressive multifocal leukoencephalopathy;PML;Leukoencephalopathy, progressive multifocal;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
28	Systemic amyloidosis;AL amyloidosis;
34	Neurofibromatosis;
35	Pemphigus;
36	Epidermolysis bullosa;
38	Stevens-Johnson syndrome;SJS;Mucocutaneous ocular syndrome;
40	Takayasu arteritis;Aortitis syndrome;Pulseless disease;Aortitis syndrome;
41	Giant cell arteritis;Temporal arteritis;
42	Polyarteritis nodosa;PAN;
45	Eosinophilic granulomatosis with Polyangiitis;EGPA;Eosinophilic multiple vasculitis granulomatous disease;Allergic granulomatous angiitis;AGA;Churg-Strauss syndrome;CSS;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
47	Buerger disease;Thromboangiitis obliterans;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
57	Idiopathic dilated cardiomyopathy;
60	Aplastic anemia;
62	Paroxysmal nocturnal hemoglobinuria;PNH;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
96	Crohn disease;Terminal ileitis;
113	Muscular dystrophy;
164	Oculocutaneous albinism;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
283	Acquired pure red cell aplasia;Pure red cell aplasia;
284	Diamond-Blackfan anemia;
285	Fanconi anemia;
296	Biliary atresia;
331	Idiopathic multicentric castleman disease;iMCD;Castleman disease;

122

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;

123

Platelet activation 💬

[1] PTGS1 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

124

Prion disease 💬

[1] PSMB5 💬

Bortezomib 💬

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

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

125

Propanoate metabolism 💬

[1] ABAT 💬

[14] 2 , 3 , 5 , 6 , 13, 26, 65, 85, 90, 102, 127, 222, 233, 256 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
90	Retinitis pigmentosa;
102	Rubinstein-Taybi syndrome;RSTS;Histone acetylation disorder;
127	Frontotemporal lobar degeneration;
222	Primary nephrotic syndrome;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

126

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;

127

Proteasome 💬

[1] PSMB5 💬

Bortezomib 💬

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

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

128

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;

129

Regulation of lipolysis in adipocytes 💬

[1] ADRB2 💬

Clenbuterol 💬

[5] 1 , 2 , 6 , 13, 256 💬

Disease ID	Name
1	Spinal and bulbar muscular atrophy;Spinobulbar muscular atrophy;SBMA;Kennedy disease;Kennedy-Alter-Sung syndrome;
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

130

Regulation of lipolysis in adipocytes 💬

[1] ADRB2 💬

Albuterol 💬

[12] 3 , 11, 12, 13, 49, 85, 86, 89, 111, 113, 256, 299 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
11	Myasthenia gravis;MG;
12	Congenital myasthenic syndrome;
13	Multiple sclerosis/Neuromyelitis optica;
49	Systemic lupus erythematosus;SLE;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
111	Congenital myopathy;
113	Muscular dystrophy;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
299	Cystic fibrosis;

131

Regulation of lipolysis in adipocytes 💬

[2] PTGS1, PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

132

Renin secretion 💬

[1] ADRB2 💬

Clenbuterol 💬

[5] 1 , 2 , 6 , 13, 256 💬

Disease ID	Name
1	Spinal and bulbar muscular atrophy;Spinobulbar muscular atrophy;SBMA;Kennedy disease;Kennedy-Alter-Sung syndrome;
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

133

Renin secretion 💬

[1] ADRB2 💬

Albuterol 💬

[12] 3 , 11, 12, 13, 49, 85, 86, 89, 111, 113, 256, 299 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
11	Myasthenia gravis;MG;
12	Congenital myasthenic syndrome;
13	Multiple sclerosis/Neuromyelitis optica;
49	Systemic lupus erythematosus;SLE;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
111	Congenital myopathy;
113	Muscular dystrophy;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
299	Cystic fibrosis;

134

Retrograde endocannabinoid signaling 💬

[1] PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

135

Salivary secretion 💬

[1] ADRB2 💬

Clenbuterol 💬

[5] 1 , 2 , 6 , 13, 256 💬

Disease ID	Name
1	Spinal and bulbar muscular atrophy;Spinobulbar muscular atrophy;SBMA;Kennedy disease;Kennedy-Alter-Sung syndrome;
2	Amyotrophic lateral sclerosis;ALS;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

136

Salivary secretion 💬

[1] ADRB2 💬

Albuterol 💬

[12] 3 , 11, 12, 13, 49, 85, 86, 89, 111, 113, 256, 299 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
11	Myasthenia gravis;MG;
12	Congenital myasthenic syndrome;
13	Multiple sclerosis/Neuromyelitis optica;
49	Systemic lupus erythematosus;SLE;
85	Idiopathic interstitial pneumonia;IIPs;
86	Pulmonary arterial hypertension;PAH;
89	Lymphangioleiomyomatosis;LAM;
111	Congenital myopathy;
113	Muscular dystrophy;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
299	Cystic fibrosis;

137

Serotonergic synapse 💬

[2] PTGS1, PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

138

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;

139

Small cell lung cancer 💬

[1] PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

140

Sphingolipid metabolism 💬

[1] UGCG 💬

Miglustat 💬

Miglustat

[3] 19, 256, 299 💬

141

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;

142

Spinocerebellar ataxia 💬

[1] PSMB5 💬

Bortezomib 💬

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

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

143

[1] GAA 💬

[1] 256 💬

144

[1] GAA 💬

[1] 256 💬

145

[1] GAA 💬

[1] 256 💬

146

[1] GAA 💬

Duvoglustat 💬

[1] 256 💬

147

Taste transduction 💬

[3] SCN2A, SCN3A, SCN9A 💬

Lidocaine 💬

[13] 6 , 13, 22, 34, 46, 51, 70, 84, 86, 107, 168, 226, 256 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
34	Neurofibromatosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
107	Juvenile idiopathic arthritis;JIA;
168	Ehlers-Danlos syndrome;EDS;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

148

Taste transduction 💬

[3] SCN2A, SCN3A, SCN9A 💬

Lidocaine hydrochloride monohydrate 💬

Name	Other Names
Lidocaine hydrochloride monohydrate	Lidocaine hydrochloride monohydrate Lidocaine (TN) Zingo (TN) 1% LIDOCAINE HCI 2% LIDOCAINE HCI LIDENZAL 1% LIDENZAL 2% LIDOCAINE HCI LIDOCAINE HCL LIDOCAINE HYDROCHLORIDE NA PRELIDOPINE PRE-OPERATIVE SYSTEM

[13] 6 , 13, 22, 34, 46, 51, 70, 84, 86, 107, 168, 226, 256 💬

Disease ID	Name
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
22	Moyamoya disease;Occlusive disease in circle of Willis;
34	Neurofibromatosis;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
84	Sarcoidosis;
86	Pulmonary arterial hypertension;PAH;
107	Juvenile idiopathic arthritis;JIA;
168	Ehlers-Danlos syndrome;EDS;
226	Interstitial cystitis with Hunners ulcer;Interstitial cystitis;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

149

Taurine and hypotaurine metabolism 💬

[2] GAD1, GAD2 💬

[14] 2 , 3 , 5 , 6 , 13, 26, 65, 85, 90, 102, 127, 222, 233, 256 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
90	Retinitis pigmentosa;
102	Rubinstein-Taybi syndrome;RSTS;Histone acetylation disorder;
127	Frontotemporal lobar degeneration;
222	Primary nephrotic syndrome;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

150

Th17 cell differentiation 💬

[1] MTOR 💬

Sirolimus 💬

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

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

151

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;

152

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;

153

TNF signaling pathway 💬

[1] PTGS2 💬

[15] 3 , 6 , 11, 13, 34, 35, 46, 49, 51, 70, 86, 222, 256, 271, 337 💬

Disease ID	Name
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
6	Parkinson disease;Disease Parkinson's;
11	Myasthenia gravis;MG;
13	Multiple sclerosis/Neuromyelitis optica;
34	Neurofibromatosis;
35	Pemphigus;
46	Malignant rheumatoid arthritis;MRA;Rheumatoid vasculitis;RV;Rheumatoid arthritis;RA;
49	Systemic lupus erythematosus;SLE;
51	Scleroderma;Systemic sclerosis;SSc;
70	Spinal stenosis;Extensive spinal canal stenosis;
86	Pulmonary arterial hypertension;PAH;
222	Primary nephrotic syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;
271	Ankylosing spondylitis;Spondylarthritis ankylopoietica;
337	Homocystinuria;

154

Type I diabetes mellitus 💬

[2] GAD1, GAD2 💬

[14] 2 , 3 , 5 , 6 , 13, 26, 65, 85, 90, 102, 127, 222, 233, 256 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
90	Retinitis pigmentosa;
102	Rubinstein-Taybi syndrome;RSTS;Histone acetylation disorder;
127	Frontotemporal lobar degeneration;
222	Primary nephrotic syndrome;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

155

Type II diabetes mellitus 💬

[1] CACNA1G 💬

[14] 2 , 3 , 5 , 6 , 13, 26, 65, 85, 90, 102, 127, 222, 233, 256 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
90	Retinitis pigmentosa;
102	Rubinstein-Taybi syndrome;RSTS;Histone acetylation disorder;
127	Frontotemporal lobar degeneration;
222	Primary nephrotic syndrome;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

156

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;

157

Valine, leucine and isoleucine degradation 💬

[1] ABAT 💬

[14] 2 , 3 , 5 , 6 , 13, 26, 65, 85, 90, 102, 127, 222, 233, 256 💬

Disease ID	Name
2	Amyotrophic lateral sclerosis;ALS;
3	Spinal muscular atrophy;Myelopathic muscular atrophy;
5	Progressive supranuclear palsy;PSP;
6	Parkinson disease;Disease Parkinson's;
13	Multiple sclerosis/Neuromyelitis optica;
26	HTLV-1-associated myelopathy;Tropical spastic paraparesis;HTLV-1;HTLV-I-associated myelopathy;HAM;
65	Primary immunodeficiency;
85	Idiopathic interstitial pneumonia;IIPs;
90	Retinitis pigmentosa;
102	Rubinstein-Taybi syndrome;RSTS;Histone acetylation disorder;
127	Frontotemporal lobar degeneration;
222	Primary nephrotic syndrome;
233	Wolfram syndrome;Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome;DIDMOAD syndrome;
256	Muscle glycogenosis;Muscular glycogenosis;Muscle glycogen storage disease;Muscular glycogen storage disease;

158

VEGF signaling pathway 💬

[1] PTGS2 💬