Disease: Romano-Ward Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 GeneticVariation disease BEFREE According to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT syndrome (LQTS; Romano-Ward syndrome [RWS]) 1 cases. 28595573 2017
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 GeneticVariation disease BEFREE KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. 27041150 2016
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 CausalMutation disease CLINVAR Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. 26546361 2015
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 CausalMutation disease CLINVAR Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1. 24912595 2014
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 CausalMutation disease CLINVAR Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families. 24552659 2014
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 CausalMutation disease CLINVAR Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. 23392653 2013
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 CausalMutation disease CLINVAR Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel. 22309168 2012
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 CausalMutation disease CLINVAR End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome. 22429796 2012
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 CausalMutation disease CLINVAR Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. 23098067 2012
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 CausalMutation disease CLINVAR Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. 22539601 2012
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 CausalMutation disease CLINVAR Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome. 21350584 2011
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 CausalMutation disease CLINVAR PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions. 19934648 2010
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 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
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 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: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 GeneticVariation disease LHGDN 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: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 GeneticVariation disease BEFREE The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome. 16981927 2006
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 Biomarker disease BEFREE We prospectively followed-up 44 JLNS patients from the U.S. portion of the International LQTS Registry and compared their clinical course with 2,174 patients with the phenotypically determined dominant form of LQTS (Romano-Ward syndrome [RWS]) and a subgroup of 285 patients with type 1 LQTS (LQT1). 16911578 2006
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 Biomarker disease BEFREE Dominant-negative I(Ks) suppression by KCNQ1-deltaF339 potassium channels linked to Romano-Ward syndrome. 15950200 2005
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 GeneticVariation disease CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476 2005
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 CausalMutation disease CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476 2005
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 GeneticVariation disease LHGDN Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome. 15511625 2004
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 GeneticVariation disease CLINVAR Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 15466642 2004
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 GeneticVariation disease BEFREE Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome. 15511625 2004
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.500 CausalMutation disease CLINVAR Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome). 14510661 2003