| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1854301 | Motor delay | phenotype | Mental Disorders | Finding | Abnormality of the nervous system | 384 | 34 | |
| C1843057 | Calf muscle hypertrophy | phenotype | Finding | Abnormality of limbs; Abnormality of the musculature | 46 | 5 | ||
| C1866010 | Proximal muscle weakness in lower limbs | phenotype | Finding | Abnormality of limbs; Abnormality of the musculature | 30 | 4 |