Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
0.430 Biomarker phenotype BEFREE The Kv1.1 and Kv1.2 (also known as KCNA1 and KCNA2, respectively) subunits are associated with cell adhesion molecules (CAMs), including Caspr2 (also known as CNTNAP2) and LGI1, which are implicated in autoimmune and genetic neurological diseases with seizures. 30598502 2019
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
0.430 GeneticVariation phenotype BEFREE Finally, exome sequencing enabled us to characterize a heterozygous de novo missense (p.Val408Ala) in KCNA2 encoding the potassium channel Kv 1.2 in a girl with infantile-onset seizures variant of RTT. 27062609 2017
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
0.430 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
0.430 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
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
0.430 Biomarker phenotype HPO