| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0241005 | Creatine phosphokinase serum increased | phenotype | Finding | genetic disease; disease of metabolism | Abnormality of metabolism/homeostasis | 23 | 42 | |
| C0541794 | Skeletal muscle atrophy | phenotype | Pathologic Function | Abnormality of the musculature | 10 | 12 | ||
| C1869123 | Limb-girdle muscular dystrophy type 2A | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | Disease or Syndrome | disease of anatomical entity | 1 | 142 |