Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.200 Biomarker disease BEFREE 1.The human HERG gene encodes the cardiac repolarizing K(+) current I(Kr) and is genetically inactivated in inherited long QT syndrome 2 (LQTS2). 12411421 2002
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.200 GeneticVariation disease BEFREE Congenital long-QT syndrome (LQTS) is caused by mutations of genes encoding the slow component of the delayed rectifier current (LQT1, LQT5), the rapid component of the delayed rectifier current (LQT2, LQT6), or the Na(+) current (LQT3), resulting in ST-T-wave abnormalities on the ECG. 11104743 2000
Entrez Id: 9992
Gene Symbol: KCNE2
KCNE2
0.040 GeneticVariation disease BEFREE Congenital long-QT syndrome (LQTS) is caused by mutations of genes encoding the slow component of the delayed rectifier current (LQT1, LQT5), the rapid component of the delayed rectifier current (LQT2, LQT6), or the Na(+) current (LQT3), resulting in ST-T-wave abnormalities on the ECG. 11104743 2000
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
0.170 GeneticVariation disease BEFREE Congenital long-QT syndrome (LQTS) is caused by mutations of genes encoding the slow component of the delayed rectifier current (LQT1, LQT5), the rapid component of the delayed rectifier current (LQT2, LQT6), or the Na(+) current (LQT3), resulting in ST-T-wave abnormalities on the ECG. 11104743 2000
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.200 GeneticVariation disease BEFREE Congenital long-QT syndrome (LQTS) is caused by mutations of genes encoding the slow component of the delayed rectifier current (LQT1, LQT5), the rapid component of the delayed rectifier current (LQT2, LQT6), or the Na(+) current (LQT3), resulting in ST-T-wave abnormalities on the ECG. 11104743 2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.200 GeneticVariation disease BEFREE Congenital long-QT syndrome (LQTS) is caused by mutations of genes encoding the slow component of the delayed rectifier current (LQT1, LQT5), the rapid component of the delayed rectifier current (LQT2, LQT6), or the Na(+) current (LQT3), resulting in ST-T-wave abnormalities on the ECG. 11104743 2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.200 GeneticVariation disease BEFREE Congenital long QT syndrome type 3 (LQT3) is caused by mutations in the gene SCN5A encoding the alpha-subunit of the cardiac Na(+) channel (Nav1.5). 12673799 2003
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.200 Biomarker disease BEFREE Congenital long QT syndrome type 3 (LQT3) is an inherited cardiac arrhythmia disorder due to mutations in the cardiac sodium channel gene, SCN5A. 16039271 2005
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.200 GeneticVariation disease BEFREE Congenital long QT syndrome 2 (LQT2) is caused by loss-of-function mutations in the human ether-á-go-go-related gene (hERG) voltage-gated potassium (K(+)) channel. hERG channels have slow deactivation kinetics that are regulated by an N-terminal Per-Arnt-Sim (PAS) domain. 21536673 2011
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.200 GeneticVariation disease BEFREE Congenital long QT syndrome of particularly malignant course connected with so far unknown mutation in the sodium channel SCN5A gene. 23558814 2013
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.200 GeneticVariation disease BEFREE Congenital long QT syndrome with compound mutations in the KCNH2 gene. 24057343 2014
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.200 GeneticVariation disease BEFREE Inherited long QT syndrome (LQTS) recently has been associated with mutations in genes coding for potassium (KVLQT1, KCNE1, and HERG) or sodium (SCN5A) ion channels involved in regulating either sodium inward or potassium outward currents of heart cells, resulting in prolongation of the repolarization period. 9654228 1998
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
0.170 GeneticVariation disease BEFREE Inherited long QT syndrome (LQTS) recently has been associated with mutations in genes coding for potassium (KVLQT1, KCNE1, and HERG) or sodium (SCN5A) ion channels involved in regulating either sodium inward or potassium outward currents of heart cells, resulting in prolongation of the repolarization period. 9654228 1998
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.200 GeneticVariation disease BEFREE Inherited long QT syndrome (LQTS) recently has been associated with mutations in genes coding for potassium (KVLQT1, KCNE1, and HERG) or sodium (SCN5A) ion channels involved in regulating either sodium inward or potassium outward currents of heart cells, resulting in prolongation of the repolarization period. 9654228 1998
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.200 GeneticVariation disease BEFREE Inherited long QT syndrome (LQTS) recently has been associated with mutations in genes coding for potassium (KVLQT1, KCNE1, and HERG) or sodium (SCN5A) ion channels involved in regulating either sodium inward or potassium outward currents of heart cells, resulting in prolongation of the repolarization period. 9654228 1998
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.200 GeneticVariation disease BEFREE HERG(1) K(+) channel mutations are responsible for one form of dominantly inherited long QT syndrome (LQT). 10753933 2000
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.200 Biomarker disease BEFREE LQT2 is one form of the congenital long QT syndrome. 11196567 2000
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.200 GeneticVariation disease BEFREE KCNH2 codes for the HERG ion channel and mutations in the gene are associated with congenital long-QT syndrome (LQTS), and in the family of this case of SIDS, the mutation was associated with Torsades de pointes tachycardia, making SIDS the most likely outcome of congenital LQTS. 15670565 2005
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.200 GeneticVariation disease BEFREE KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome. 16116052 2005
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.200 GeneticVariation disease BEFREE HERG (KCNH2) gene mutations are associated with congenital long-QT syndrome (LQT2) and affect IKr activity, a key determinant in ventricular repolarization. 16923798 2006
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.200 GeneticVariation disease BEFREE KCNH2 gene mutations disrupting rapid component of I(K) (I(Kr)) underlie type 2 congenital long QT syndrome (LQT2). 19419905 2009
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.200 Biomarker disease BEFREE KCNQ1, like many K(+) channel α subunits, is regulated by KCNE β subunits, inherited mutations in which also associate with LQTS. 20688187 2010
Entrez Id: 10142
Gene Symbol: AKAP9
AKAP9
0.010 Biomarker disease BEFREE AKAP9 is a genetic modifier of congenital long-QT syndrome type 1. 25087618 2014
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.200 Biomarker disease BEFREE LQT1 is a subtype of LQTS caused by mutations in KCNQ1, affecting the slow delayed-rectifier potassium current (<i>I</i><sub>Ks</sub>), which is essential for cardiac repolarization. 30967788 2019
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.200 GeneticVariation disease BEFREE D1790G, a mutation of SCN5A, the gene that encodes the human Na(+) channel alpha-subunit, is linked to 1 form of the congenital long-QT syndrome (LQT-3). 10920073 2000