| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0022578 | Keratoconus | disease | Eye Diseases | Disease or Syndrome | disease of anatomical entity | Abnormality of the eye | 163 | 81 |
| C0041341 | Tuberous Sclerosis | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | Neoplastic Process | genetic disease | 280 | 35 |