Spinocerebellar ataxia, with axonal neuropathy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Spinocerebellar ataxia with axonal neuropathy type 2 | 64753 | SETX | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| PIK3R5 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| Spinocerebellar ataxia with axonal neuropathy type 1 | 94124 | TDP1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY | C1846574 | TDP1 | Causal Pathogenic evidence from ClinVar | 12244316, 15647511, 15920477, 16141202, 17948061 | ClinVar |