| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | A type of myotonia that worsens with repeated muscle contractions. (Human Phenotype Ontology, HP_0011809) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0011809 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the paradoxical myotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| SCN4A | sodium channel, voltage gated, type IV alpha subunit |
