Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 CausalMutation phenotype CLINVAR Seizure characteristics in chromosome 20 benign familial neonatal convulsions. 8327138 1993
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 GeneticVariation phenotype CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 CausalMutation phenotype CLINVAR Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. 9872318 1998
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 Biomarker phenotype HPO