Disease: LONG QT SYNDROME 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 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
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 GeneticVariation disease UNIPROT Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂. 25037568 2014
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 GeneticVariation disease UNIPROT Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 GeneticVariation disease CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 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
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 Biomarker disease BEFREE The role of abnormal trafficking of KCNE1 in long QT syndrome 5. 17956282 2007
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 GeneticVariation disease UNIPROT Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 16414944 2005
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 GeneticVariation disease CLINVAR Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel. 12566567 2003
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 GeneticVariation disease CLINVAR Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism. 11874988 2002
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 GeneticVariation disease UNIPROT A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype. 11692163 2001
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 GeneticVariation disease UNIPROT Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 GeneticVariation disease UNIPROT Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. 10400998 1999
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 Biomarker disease GENOMICS_ENGLAND Adult KCNE1-knockout mice exhibit a mild cardiac cellular phenotype. 9790991 1998
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 GeneticVariation disease UNIPROT Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. 9445165 1998
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 GeneticVariation disease UNIPROT Mutations in the hminK gene cause long QT syndrome and suppress IKs function. 9354802 1997
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 GeneticVariation disease CLINVAR KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 9354783 1997
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 Biomarker disease CTD_human
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 CausalMutation disease CLINVAR
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		0.710 SusceptibilityMutation disease CLINVAR