| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0007959 | Charcot-Marie-Tooth Disease | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 208 | 136 | |
| C1856689 | FRIEDREICH ATAXIA 1 | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 119 | 24 |