Gene

Disease ID	Name
2	Amyotrophic lateral sclerosis
11	Myasthenia gravis
13	Multiple sclerosis/Neuromyelitis optica
14	Chronic inflammatory demyelinating polyneuropathy
19	Lysosomal storage disease
26	HTLV-1-associated myelopathy
35	Pemphigus
40	Takayasu arteritis
41	Giant cell arteritis
42	Polyarteritis nodosa
43	Microscopic polyangiitis
44	Wegener granulomatosis
45	Eosinophilic granulomatosis with Polyangiitis
46	Malignant rheumatoid arthritis
49	Systemic lupus erythematosus
50	Dermatomyositis
51	Scleroderma
53	Sjogren syndrome
61	Autoimmune hemolytic anemia
63	Idiopathic thrombocytopenic purpura
64	Thrombotic thrombocytopenic purpura
65	Primary immunodeficiency
66	IgA nephropathy
79	Homozygous familial hypercholesterolemia
81	Congenital adrenal hyperplasia
84	Sarcoidosis
85	Idiopathic interstitial pneumonia
86	Pulmonary arterial hypertension
95	Autoimmune hepatitis
96	Crohn disease
97	Ulcerative colitis
113	Muscular dystrophy
162	Pemphigoid
164	Oculocutaneous albinism
205	Fragile X syndrome related disease
222	Primary nephrotic syndrome
224	Purpura nephritis
228	Bronchiolitis obliterans
283	Acquired pure red cell aplasia
284	Diamond-Blackfan anemia
288	Autoimmune acquired coagulation factor deficiency
299	Cystic fibrosis
300	IgG4-related disease
307	Canavan disease
331	Idiopathic multicentric castleman disease

[4] 49, 79, 93, 260 💬

[11] 6, 34, 46, 79, 156, 160, 195, 206, 263, 280, 310 💬

Disease ID	Name
6	Parkinson disease
34	Neurofibromatosis
46	Malignant rheumatoid arthritis
79	Homozygous familial hypercholesterolemia
156	Rett syndrome
160	Congenital ichthyosis
195	Noonan syndrome
206	Fragile X syndrome
263	Cerebrotendinous xanthomatosis
280	Huge arteriovenous malformation with cervicofacial or limb lesion
310	Congenital anomalies syndrome

Disease ID	Name
6	Parkinson disease
13	Multiple sclerosis/Neuromyelitis optica
15	Inclusion body myositis
34	Neurofibromatosis
46	Malignant rheumatoid arthritis
49	Systemic lupus erythematosus
51	Scleroderma
66	IgA nephropathy
79	Homozygous familial hypercholesterolemia
86	Pulmonary arterial hypertension
89	Lymphangioleiomyomatosis
94	Primary sclerosing cholangitis
158	Tuberous sclerosis
160	Congenital ichthyosis
162	Pemphigoid
195	Noonan syndrome
265	Lipodystrophy
288	Autoimmune acquired coagulation factor deficiency
298	Hereditary pancreatitis
299	Cystic fibrosis
310	Congenital anomalies syndrome

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

Disease ID	Name
13	Multiple sclerosis/Neuromyelitis optica
46	Malignant rheumatoid arthritis
49	Systemic lupus erythematosus
51	Scleroderma
58	Hypertrophic cardiomyopathy
63	Idiopathic thrombocytopenic purpura
79	Homozygous familial hypercholesterolemia
84	Sarcoidosis
88	Chronic thromboembolic pulmonary hypertension
93	Primary biliary cholangitis
96	Crohn disease
97	Ulcerative colitis
160	Congenital ichthyosis
222	Primary nephrotic syndrome
225	Congenital nephrogenic diabetes insipidus
265	Lipodystrophy
271	Ankylosing spondylitis
297	Alagille syndrome
299	Cystic fibrosis