Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 Biomarker disease GENOMICS_ENGLAND A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome. 26168993 2015
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 GeneticVariation disease UNIPROT Post-translational N-glycosylation of type I transmembrane KCNE1 peptides: implications for membrane protein biogenesis and disease. 21676880 2011
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 Biomarker disease GENOMICS_ENGLAND Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 Biomarker disease CLINGEN The multifaceted phenotype of the knockout mouse for the KCNE1 potassium channel gene. 11832382 2002
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 Biomarker disease CLINGEN [Clinical aspects and molecular genetics of the Jervell- and Lange-Nielsen Syndrome]. 12132284 2002
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 Biomarker disease CLINGEN Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 Biomarker disease CLINGEN A new spontaneous mouse mutation in the Kcne1 gene. 11003695 2000
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 GeneticVariation disease UNIPROT Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. 10400998 1999
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 Biomarker disease CLINGEN Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. 10400998 1999
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 Biomarker disease CLINGEN Replacement by homologous recombination of the minK gene with lacZ reveals restriction of minK expression to the mouse cardiac conduction system. 9933245 1999
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 Biomarker disease CLINGEN Involvement of IsK-associated K+ channel in heart rate control of repolarization in a murine engineered model of Jervell and Lange-Nielsen syndrome. 9670922 1998
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 Biomarker disease GENOMICS_ENGLAND Adult KCNE1-knockout mice exhibit a mild cardiac cellular phenotype. 9790991 1998
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 Biomarker disease CLINGEN Adult KCNE1-knockout mice exhibit a mild cardiac cellular phenotype. 9790991 1998
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 Biomarker disease CLINGEN Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. 9445165 1998
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 GeneticVariation disease UNIPROT KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 9354783 1997
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 GeneticVariation disease UNIPROT IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. 9328483 1997
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 Biomarker disease CLINGEN IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. 9328483 1997
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 Biomarker disease CLINGEN KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 9354783 1997
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 Biomarker disease CLINGEN Inner ear defects induced by null mutation of the isk gene. 8982171 1996
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 Biomarker disease CTD_human
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1 		0.700 CausalMutation disease CLINVAR