Disease: Jervell And Lange-Nielsen Syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 CausalMutation disease CLINVAR Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome. 29372044 2018
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND Emerging therapeutic targets in the short QT syndrome. 29697308 2018
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		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
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		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
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		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
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 GeneticVariation disease UNIPROT A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family. 18441444 2008
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 GeneticVariation disease UNIPROT Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. 10728423 2000
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 GeneticVariation disease UNIPROT Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias. 10090886 1999
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND Genetic and molecular basis of cardiac arrhythmias: impact on clinical management part III. 9950666 1999
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		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
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 8528244 1996
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 Biomarker disease CTD_human
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 GeneticVariation disease CLINVAR
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND