Disease: Long Qt Syndrome 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 Biomarker disease CTD_human
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. 7889573 1995
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 Biomarker disease GENOMICS_ENGLAND A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. 7889573 1995
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT Missense mutation in the pore region of HERG causes familial long QT syndrome. 8635257 1996
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT A mutation in HERG associated with notched T waves in long QT syndrome. 8877771 1996
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome. 8914737 1996
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 CausalMutation disease CLINVAR Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139 1997
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139 1997
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 AlteredExpression disease BEFREE Along the same line of development of gene-specific therapy, recent data demonstrated that an increase in the extracellular concentration of potassium shortens the QT interval in LQT2 patients suggesting that intervention aimed at increasing potassium plasma levels may represent a specific treatment for LQT2. 9272507 1997
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 CausalMutation disease CLINVAR Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family. 9452080 1998
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family. 9452080 1998
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE The human ether-a-go-go-related gene (herg) encodes a K+ current (IHERG) that plays a fundamental role in heart excitability by regulating the action potential repolarization (IKr); mutations of this gene are responsible for the chromosome 7-linked long QT syndrome (LQT2). 9485040 1998
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. 9544837 1998
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 CausalMutation disease CLINVAR Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. 9544837 1998
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. 9600240 1998
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036 1998
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE Mutations in HERG are associated with human chromosome 7-linked congenital long QT (LQT-2) syndrome. 9694858 1998
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. 10086971 1999
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation. 10187793 1999
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 10220144 1999
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 CausalMutation disease CLINVAR Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects. 10483966 1999
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome. 10517660 1999
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease BEFREE The chromosome 7-linked form of congenital long QT syndrome (LQT2) is caused by mutations in the human ether-a-go-go-related gene (HERG) that encodes the rapidly activating delayed rectifier potassium channel. 10531299 1999
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 CausalMutation disease CLINVAR Romano-Ward long QT syndrome: identification of a HERG mutation in a Taiwanese kindred. 10560244 1999
CUI: C3150943
Disease: Long Qt Syndrome 2
Long Qt Syndrome 2 		0.800 GeneticVariation disease UNIPROT Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2. 10735633 2000