Paramyotonia congenita
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| PARAMYOTONIA CONGENITA | RANBP2 | Unknown | — | Disgenet | ||
| SCN4A | Unknown | — | HPO, Disgenet | |||
| PARAMYOTONIA CONGENITA OF VON EULENBURG | SCN4A | Causal | ClinVar, GWAS catalog, Orphanet | |||
| PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA | SCN4A | Causal | Disgenet |