Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 Biomarker CTD_human Identification of (R)-N-(4-(4-methoxyphenyl)thiazol-2-yl)-1-tosylpiperidine-2-carboxamide, ML277, as a novel, potent and selective K(v)7.1 (KCNQ1) potassium channel activator. 22910039

2012
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 Biomarker CTD_human Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment? 20513597

2010
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 Biomarker CTD_human Isoproterenol enhancement of I(Ks) current in amiodarone-induced long QT syndrome. 18329740

2009
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 Biomarker CTD_human Further evidence of inherited long QT syndrome gene mutations in antiarrhythmic drug-associated torsades de pointes. 17467628

2007
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 Biomarker CTD_human Eighteen symptomatic LQTS patients (12 families) were genetically diagnosed as having heterozygous KCNQ1 variants and received beta-blocker therapy. 15028050

2004
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 Biomarker CTD_human Effect of phenylephrine provocation on dispersion of repolarization in congenital long QT syndrome. 14510655

2003
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 Biomarker CTD_human Evidence for a cardiac ion channel mutation underlying drug-induced QT prolongation and life-threatening arrhythmias. 10868744

2000
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 Biomarker GENOMICS_ENGLAND