Myasthenic syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL | CHRNA1 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| MYASTHENIC SYNDROME, CONGENITAL, 22 | PREPL | Causal | ClinVar, Disgenet, HPO, Orphanet | — | ||
| MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC | SLC25A1 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC | MYO9A | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC | VAMP1 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE | SYT2 | Causal | ClinVar, Disgenet, GWAS catalog, HPO |