Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.720 Biomarker disease GENOMICS_ENGLAND Emerging therapeutic targets in the short QT syndrome. 29697308 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.720 Biomarker disease BEFREE To determine genotype-specific phenotypes in SQT1 (KCNH2), SQT2 (KCNQ1), and other subtypes SQT3-6, we analyzed clinical variables in 65 mutation-positive patients among all the 132 SQTS cases previously reported. 25974115 2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.720 Biomarker disease BEFREE A few families have been identified with specific genotypes: 3 with mutations in potassium channels called SQT1 (Iks), SQT2 (Ikr) and SQT3 (Ik1). 23677719 2013
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.720 GeneticVariation disease UNIPROT Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. 15159330 2004
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.720 Biomarker disease GENOMICS_ENGLAND Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 8528244 1996
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.720 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.720 GeneticVariation disease CLINVAR
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.720 CausalMutation disease CLINVAR
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.720 Biomarker disease CTD_human
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.200 Biomarker disease MGD Selective knockout of mouse ERG1 B potassium channel eliminates I(Kr) in adult ventricular myocytes and elicits episodes of abrupt sinus bradycardia. 12612061 2003
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
0.010 GeneticVariation disease BEFREE A few families have been identified with specific genotypes: 3 with mutations in potassium channels called SQT1 (Iks), SQT2 (Ikr) and SQT3 (Ik1). 23677719 2013