| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0007193 | Cardiomyopathy, Dilated | group | Cardiovascular Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | Abnormality of the cardiovascular system | 43 | 443 |
| C1864840 | Combined Oxidative Phosphorylation Deficiency 3 | disease | Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 1 | 4 |