Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 Biomarker GENOMICS_ENGLAND Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis. 28069705

2017
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 Biomarker GENOMICS_ENGLAND SCN5A mutation in Chinese patients with arrhythmogenic right ventricular dysplasia. 24317018

2014
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 Biomarker GENOMICS_ENGLAND Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. 16818210

2006
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.400 Biomarker GENOMICS_ENGLAND A novel mutation in the cardiac ryanodine receptor gene (RyR2) in a patient with an unequivocal LQTS. 21126784

2011
Entrez Id: 6330
Gene Symbol: SCN4B
SCN4B
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.320 Biomarker GENOMICS_ENGLAND SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. 17592081

2007
Entrez Id: 6330
Gene Symbol: SCN4B
SCN4B
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.320 Biomarker GENOMICS_ENGLAND

Entrez Id: 10008
Gene Symbol: KCNE3
KCNE3
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.310 Biomarker GENOMICS_ENGLAND To investigate the association between KCNE3 and LQTS, we conducted a genetic screening of KCNE3 mutations and single nucleotide polymorphisms (SNPs) in 485 Japanese LQTS probands using DHPLC-WAVE system and direct sequencing. 19306396

2009