Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
0.350 Biomarker disease BEFREE Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. 30461122 2019
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
0.350 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
0.350 GeneticVariation disease BEFREE Romano-Ward syndrome (RWs) and Jervell and Lange-Nielsen Syndrome (JLNs) are two inherited arrhythmia disorders caused by monoallelic or bi-allelic mutations, respectively, in the KCNQ1 or KCNE1 genes. 19027783 2009
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
0.350 GeneticVariation disease BEFREE Mutations in either KCNQ1 or KCNE1 are responsible for at least four channelopathies that lead to cardiac dysfunction and one that leads to congenital deafness: the Romano-Ward syndrome, the short QT syndrome, atrial fibrillation, and the Jervell and Lange-Nielsen syndrome (cardioauditory syndrome). 16929947 2006
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
0.350 GeneticVariation disease BEFREE Both autosomal dominant LQT (Romano-Ward syndrome) and autosomal recessive LQT (Jervell and Lange-Nielsen syndrome, JLNS) have been reported. 10077519 1999
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
0.350 GeneticVariation disease BEFREE Depending on their location and copy number, mutations of KCNQ1 and KCNE1 can cause either autosomal dominant Romano-Ward syndrome or autosomal recessive Jervell and Lange-Nielsen syndrome. 9848024 1998