Congenital myasthenic syndrome, acetazolamide-responsive Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.omim.org/entry/614198
Similar Terms
Downloads & Tools

Genes

4 genes associated with the Congenital myasthenic syndrome, acetazolamide-responsive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
SCN4A sodium channel, voltage gated, type IV alpha subunit
SURF1 surfeit 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I