Spinal muscular atrophy
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| ADULT-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL DOMINANT | VAPB | Causal | CTD | |||
| SPINAL MUSCULAR ATROPHY | DYNC1H1 | Causal | — | Disgenet | ||
| IGHMBP2 | Causal | — | Disgenet | — | ||
| SMN1 | Causal | — | ClinVar, Disgenet, GenCC | |||
| VRK1 | Causal | Disgenet | ||||
| SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 | TRIP4 | Causal | — | CTD, ClinVar, Disgenet, GenCC, HPO | — | |
| SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 | ASCC1 | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 6 | REEP1 | Causal | — | ClinVar, GenCC | ||
| SPINAL MUSCULAR ATROPHY, FACIOSCAPULOHUMERAL TYPE | PLEKHG5 | Causal | — | Disgenet | ||
| SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE | GARS1 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT | BICD2 | Causal | — | ClinVar, Disgenet, HPO | ||
| SPINAL MUSCULAR ATROPHY, TYPE II | SMN1 | Causal | — | ClinVar, GenCC, HPO | ||
| SPINAL MUSCULAR ATROPHY, TYPE IV | SMN1 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME | ASAH1 | Causal | ClinVar, GWAS catalog, Orphanet | |||
| WERDNIG-HOFFMANN DISEASE |
|
SMN1 | Causal | ClinVar |