Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract | C2675204 | ABHD12 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 20797687, 22938382, 24027063, 24697911, 25743180, 27890673, 28448692, 29571850 | - |
| Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome | 171848 | ABHD12 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |