| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0027868 | Neuromuscular Diseases | group | Nervous System Diseases | Disease or Syndrome | disease of anatomical entity | 11 | 38 | |
| C2678065 | Myofibrillar Myopathy | disease | Musculoskeletal Diseases; Nervous System Diseases | Disease or Syndrome | disease of anatomical entity | Abnormality of the musculature | 7 | 15 |
| C1832244 | CARDIOMYOPATHY, DILATED, 1C (disorder) | disease | Cardiovascular Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 | 3 | |
| C4721886 | MYOPATHY, MYOFIBRILLAR, 4 | disease | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 | 2 |