Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
0.310 Biomarker phenotype CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
0.310 GeneticVariation phenotype BEFREE This gene, which encodes a member of the potassium channel, voltage-gated, shaker-related subfamily, has not been previously described as a cause of disease in humans, but mutations of the orthologous gene in mice (Kcna2) are known to cause both ataxia and convulsions. 25477152 2015