Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 CausalMutation disease CLINVAR Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome. 29372044 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 Biomarker disease GENOMICS_ENGLAND Emerging therapeutic targets in the short QT syndrome. 29697308 2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 CausalMutation disease CLINVAR A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report. 28595573 2017
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 GeneticVariation disease UNIPROT Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. 25705178 2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 GeneticVariation disease UNIPROT Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family. 18400097 2008
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 GeneticVariation disease UNIPROT A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family. 18441444 2008
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 GeneticVariation disease UNIPROT Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. 10728423 2000
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 GeneticVariation disease UNIPROT Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias. 10090886 1999
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 Biomarker disease GENOMICS_ENGLAND Genetic and molecular basis of cardiac arrhythmias: impact on clinical management part III. 9950666 1999
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 GeneticVariation disease UNIPROT Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome. 9781056 1998
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 Biomarker disease GENOMICS_ENGLAND Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 8528244 1996
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 Biomarker disease CTD_human
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 GeneticVariation disease CLINVAR
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.300 Biomarker disease CTD_human KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 9354783 1997
Entrez Id: 338653
Gene Symbol: KCNQ1-AS1
KCNQ1-AS1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1 		0.100 CausalMutation disease CLINVAR