Gene

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

[3] 79, 218, 222 💬