Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 SusceptibilityMutation disease CLINVAR
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 Biomarker disease BEFREE Since block of IKr is a known mechanism for drug-induced cardiac arrhythmias, the finding that HERG encodes IKr channels provides a mechanistic link between certain forms of inherited and acquired LQT. 7736582 1995
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 GeneticVariation disease BEFREE Recently, we demonstrated that mutations in a putative cardiac potassium channel gene, HERG, are responsible for the chromosome 7-linked form of long-QT syndrome, whereas mutations in the cardiac sodium channel gene SCN5A cause the chromosome 3-linked form of this disorder. 7788908 1995
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 Biomarker disease CTD_human Single strand conformation polymorphism and DNA sequence analyses reveal HERG mutations in six LQT families, including two intragenic deletions, one splice-donor mutation, and three missense mutations. 7889573 1995
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 CausalMutation disease CLINVAR Single strand conformation polymorphism and DNA sequence analyses reveal HERG mutations in six LQT families, including two intragenic deletions, one splice-donor mutation, and three missense mutations. 7889573 1995
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 GeneticVariation disease BEFREE Single strand conformation polymorphism and DNA sequence analyses reveal HERG mutations in six LQT families, including two intragenic deletions, one splice-donor mutation, and three missense mutations. 7889573 1995
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 Biomarker disease BEFREE The genes for the long QT syndrome (LQTS) linked to chromosomes 3 (LQT3) and 7 (LQT2) were identified as SCN5A, the cardiac Na+ channel gene, and as HERG, a K+ channel gene. 8521555 1995
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 GeneticVariation disease BEFREE We used molecular genetics to identify genes responsible for 2 forms of LQT (cardiac potassium and sodium channel genes HERG and SCN5A, respectively). 8569466 1996
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 Biomarker disease CTD_human In a family with LQT, we identified a novel mutation in human ether-a-go-go-related gene (HERG), a voltage-gated potassium channel. 8635257 1996
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 CausalMutation disease CLINVAR Spectrum of HERG K+-channel dysfunction in an inherited cardiac arrhythmia. 8700910 1996
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 GeneticVariation disease BEFREE Many members of families with inherited long-QT (LQT) syndrome have mutations in HERG, a gene encoding a cardiac potassium channel that is modulated by extracellular potassium. 8790040 1996
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 GeneticVariation disease BEFREE A mutation in HERG associated with notched T waves in long QT syndrome. 8877771 1996
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 GeneticVariation disease BEFREE Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome. 8914737 1996
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 Biomarker disease BEFREE Gene cloning studies have established that the seizure gene product is the Drosophila homolog of HERG, a member of the eag family of K+ channels implicated in one form of hereditary long QT syndrome in humans. 8994043 1997
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 Biomarker disease BEFREE Since the truncated HERG protein in patients with long QT syndrome induces a dominant phenotype, that is, cardiac sudden death, the assembly of nonfunctional complexes between wild-type and mutated subunits was implicated in causing the disease. 8995352 1997
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 CausalMutation disease CLINVAR Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139 1997
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 GeneticVariation disease BEFREE Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139 1997
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 Biomarker disease BEFREE Recently, the genes for the LQTS inked to chromosomes 3 (LQT3), 7 (LQT2), and 11 (LQT1) were identified as SCN5A, the cardiac sodium channel gene and as HERG and KvLQT1 potassium channel genes. 9272507 1997
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 Biomarker disease BEFREE Expression of the erg1 gene in the sympathetic nervous system has potential implications for the etiology of the LQT2 form of the human genetic disease long QT syndrome. 9390998 1997
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 CausalMutation disease CLINVAR Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family. 9452080 1998
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 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: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 Biomarker disease BEFREE (LQT2), SCN5A (LQT3), and KCNE1 (minK, LQT5)--have been identified in LQTS. 9511785 1998
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 GeneticVariation disease BEFREE Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. 9544837 1998
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 CausalMutation disease CLINVAR Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. 9544837 1998
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.500 GeneticVariation disease BEFREE To optimize the search for HERG mutations, we have determined the genomic structure of HERG and investigated mutations in LQTS families. 9600240 1998