Oculopharyngeal muscular dystrophy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Muscular Dystrophy, Oculopharyngeal | C0270952 | PABPN1 | Causal Pathogenic evidence from ClinVar | 12823221, 16239242, 25728001 | ClinVar |
| BCL2L2-PABPN1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| LRP12 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 31332380 | - | ||
| NUTM2B-AS1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 31332380 | - | ||
| Oculopharyngeal muscular dystrophy | 270 | PABPN1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |