Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 Biomarker GENOMICS_ENGLAND Emerging therapeutic targets in the short QT syndrome. 29697308

2018
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 GeneticVariation 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
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 GeneticVariation 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
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 GeneticVariation UNIPROT A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family. 18441444

2008
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 GeneticVariation UNIPROT Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. 10728423

2000
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 GeneticVariation UNIPROT Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias. 10090886

1999
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 Biomarker GENOMICS_ENGLAND Genetic and molecular basis of cardiac arrhythmias: impact on clinical management part III. 9950666

1999
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 GeneticVariation 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
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 Biomarker GENOMICS_ENGLAND Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 8528244

1996
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 Biomarker CTD_human

Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 Biomarker GENOMICS_ENGLAND