Lethal multiple pterygium syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Lethal multiple pterygium syndrome | 33108 | CHRNA1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| CHRND | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| CHRNG | Causal Pathogenic evidence from ClinVar | - | ClinVar | ||
| NEB | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| RAPSN | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| RYR1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |