Spinal muscular atrophy
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| BICD2-RELATED AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY | BICD2 | Unknown | Orphanet | |||
| DYNC1H1-RELATED AUTOSOMAL DOMINANT CHILDHOOD-ONSET PROXIMAL SPINAL MUSCULAR ATROPHY | DYNC1H1 | Unknown | Orphanet | |||
| SPINAL MUSCULAR ATROPHIES OF CHILDHOOD | DYNC1H1 | Unknown | — | CTD, Disgenet | ||
| SMN1 | Unknown | CTD, Disgenet | ||||
| SMN2 | Unknown | — | CTD | |||
| SPINAL MUSCULAR ATROPHY | ANKRD1 | Unknown | — | Disgenet | ||
| AR | Unknown | — | Disgenet | |||
| ARHGEF10 | Unknown | — | Disgenet | |||
| DPP6 | Unknown | — | Disgenet | — | ||
| GEMIN2 | Unknown | — | ClinVar | |||
| HEXB | Unknown | — | Disgenet | |||
| SMN2 | Unknown | — | Disgenet | |||
| SMNDC1 | Unknown | — | ClinVar | |||
| TLL2 | Unknown | — | Disgenet | |||
| TRPV4 | Unknown | — | Disgenet | |||
| VAPB | Unknown | — | Disgenet | |||
| SPINAL MUSCULAR ATROPHY 4 | SMN1 | Unknown | — | CTD | ||
| SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY | ASAH1 | Unknown | — | CTD, HPO | ||
| SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 | IGHMBP2 | Unknown | — | CTD, Disgenet | — | |
| SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 | IGHMBP2 | Unknown | Orphanet | — | ||
| SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 2 | LAS1L | Unknown | GWAS catalog, Orphanet, Disgenet | |||
| SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT | BICD2 | Unknown | — | Disgenet | ||
| DYNC1H1 | Unknown | — | Disgenet | |||
| SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 | PLEKHG5 | Unknown | — | CTD, Disgenet | ||
| TNFRSF25 | Unknown | — | Disgenet | |||
| SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE | TRPV4 | Unknown | CTD, Disgenet | |||
| SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 | ATP7A | Unknown | — | CTD, Disgenet | ||
| SPINAL MUSCULAR ATROPHY, INFANTILE | NAIP | Unknown | — | Disgenet | ||
| SMN1 | Unknown | — | Disgenet | |||
| SMN2 | Unknown | — | Disgenet | |||
| SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE | FHOD3 | Unknown | — | Disgenet | — | |
| SPINAL MUSCULAR ATROPHY, JERASH TYPE | DNAJB2 | Unknown | — | Disgenet | ||
| FBXO38 | Unknown | — | Disgenet | — | ||
| HSPB1 | Unknown | — | Disgenet | |||
| HSPB3 | Unknown | — | Disgenet | — | ||
| HSPB8 | Unknown | — | Disgenet | |||
| SIGMAR1 | Unknown | — | CTD, Disgenet | |||
| SPINAL MUSCULAR ATROPHY, JOKELA TYPE | CHCHD10 | Unknown | — | CTD, Disgenet, HPO | ||
| SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE | KIF1B | Unknown | — | Disgenet | ||
| VAPB | Unknown | — | CTD, Disgenet, HPO | |||
| SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT | DYNC1H1 | Unknown | — | HPO | ||
| SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT | BICD2 | Unknown | — | HPO | ||
| SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT | ND6 | Unknown | — | Disgenet | ||
| SPINAL MUSCULAR ATROPHY, TYPE 1 | SMN1 | Unknown | — | GenCC | ||
| SPINAL MUSCULAR ATROPHY, TYPE I | SMN1 | Unknown | — | HPO | ||
| SPINAL MUSCULAR ATROPHY, TYPE III | SMN1 | Unknown | — | GenCC, HPO | ||
| SMN2 | Unknown | — | GenCC | |||
| SPINAL MUSCULAR ATROPHY, TYPE IV | SMN2 | Unknown | — | Disgenet | ||
| SPINAL MUSCULAR ATROPHY, X-LINKED 2 | UBA1 | Unknown | — | HPO |