| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1834481 | CARDIOMYOPATHY, DILATED, 1S | disease | Cardiovascular Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 9 | 41 | |
| C0270914 | Hereditary Motor and Sensory-Neuropathy Type II | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | Disease or Syndrome | disease of anatomical entity | 6 | 138 |