Scapuloperoneal spinal muscular atrophy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Scapuloperoneal Form of Spinal Muscular Atrophy | C0751335 | TRPV4 | Causal Pathogenic evidence from ClinVar | 20037587, 20037588, 22187434, 22702953 | ClinVar |
| SMN1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 15862279, 19150990, 21350916, 21819082, 27111068 | - | ||
| SMN2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 21350916 | - | ||
| Scapuloperoneal spinal muscular atrophy | 431255 | TRPV4 | Causal Pathogenic evidence from ClinVar | - | ClinVar |