Ataxia neuropathy spectrum disorder
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | C1843851 | POLG | Causal Pathogenic evidence from ClinVar | 12565911, 14745080, 15477547, 15824347, 15917273, 16080118, 16621917, 16639411, 16919951, 17923349, 25655951, 25929793, 26942291, 27604308 | ClinVar |
| TWNK | Causal Pathogenic evidence from ClinVar | 15668446 | ClinVar | ||
| PRICKLE2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 21276947 | - | ||
| PRICKLE2-AS1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 21276947 | - |