Spinal muscular atrophy, x-linked
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Spinal Muscular Atrophy, Distal, X-Linked 3 | C1845359 | ATP7A | Causal Pathogenic evidence from ClinVar | 15372525, 20170900, 23035047 | ClinVar |
| PGK1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| X-linked distal spinal muscular atrophy type 3 | 139557 | ATP7A | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Infantile-onset X-linked spinal muscular atrophy | 1145 | UBA1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |