| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0007194 | Hypertrophic Cardiomyopathy | disease | Cardiovascular Diseases | Disease or Syndrome | disease of anatomical entity | Abnormality of the cardiovascular system | 560 | 635 |
| C0002986 | Fabry Disease | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases | Disease or Syndrome | genetic disease; disease of metabolism | Abnormality of the integument; Abnormality of the cardiovascular system | 108 | 206 |