CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
---|---|---|---|---|---|---|---|---|
C0410190 | Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 | 52 | |
C1449563 | Cardiomyopathy, Familial Idiopathic | disease | Cardiovascular Diseases | Disease or Syndrome | genetic disease; disease of anatomical entity | 1 | 27 |