Cerebellar ataxia-hypogonadism syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Cerebellar ataxia-hypogonadism syndrome | 1173 | RNF216 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| PNPLA6 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |