Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3746
Gene Symbol: KCNC1
KCNC1
0.120 GeneticVariation phenotype BEFREE We identified three new de novo missense variants in KCNC1 in five unrelated individuals causing different phenotypes featuring either isolated nonprogressive myoclonus (p.Cys208Tyr), intellectual disability (p.Thr399Met), or epilepsy with myoclonic, absence and generalized tonic-clonic seizures, ataxia, and developmental delay (p.Ala421Val, three patients). 31353862 2019
Entrez Id: 3746
Gene Symbol: KCNC1
KCNC1
0.120 GeneticVariation phenotype BEFREE A recurrent p.Arg320His mutation in KCNC1 was identified in the two brothers who showed characteristic features of MEAK: near normal early development, onset of myoclonus around 10 years of age, infrequent generalized tonic-clonic seizures, relatively mild cognitive impairment, and generalized epileptiform discharges. 29428275 2018
Entrez Id: 3746
Gene Symbol: KCNC1
KCNC1
0.120 Biomarker phenotype HPO
Entrez Id: 3746
Gene Symbol: KCNC1
KCNC1
0.120 CausalMutation phenotype CLINVAR