| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1848533 | Ataxia with vitamin E deficiency | disease | Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of metabolism | 1 | 28 |