| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0041341 | Tuberous Sclerosis | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | Neoplastic Process | genetic disease | 289 | 55 | |
| C1860707 | TUBEROUS SCLEROSIS 2 (disorder) | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | Disease or Syndrome | genetic disease | 43 | 255 |