Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease BEFREE Recessive variants in these genes are associated with Jervell and Lange-Nielson syndrome (JLNS1 and JLNS2), a cardio-auditory syndrome characterized by congenital profound sensorineural deafness and a prolonged QT interval that can cause ventricular arrhythmias and sudden cardiac death. 30461122 2019
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE Generation and characterization of twelve human induced pluripotent stem cell (iPSC) lines from four familial long QT syndrome type 1 (LQT1) patients carrying KCNQ1 c.1201dupC mutation. 31765965 2019
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE Coassembly of certain mutant KCNE1 monomers with wild-type KCNQ1 subunits results in RWS by a dominant negative mechanism. 30461122 2019
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE In this study, the non-integrational Sendai reprogramming method was used to express four Yamanaka factors and to generate induced pluripotent stem cell (iPSC) lines carrying the KCNQ1 c.1697C>A (p.S566Y) mutation from familial LQT1 patients. 31415974 2019
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease BEFREE Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene. 29677589 2018
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 Biomarker disease GENOMICS_ENGLAND Emerging therapeutic targets in the short QT syndrome. 29697308 2018
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE We generated hiPSCs from the peripheral blood mononuclear cells obtained from a patient with LQT1 carrying KCNQ1-A344Aspl. 29857160 2018
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE Sudden death in long-QT syndrome type 1 (LQT1), an inherited disease caused by loss-of-function mutations in KCNQ1, is triggered by early afterdepolarizations (EADs) that initiate polymorphic ventricular tachycardia (pVT). 29769222 2018
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease CLINVAR Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families. 29033053 2018
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease BEFREE Three families of JLNS who presented with long QT and deafness and who carry homozygous, or compound heterozygous mutation in KCNQ1 gene were presented in this report. 29037160 2017
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease BEFREE Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome. 27917693 2017
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease BEFREE Sequencing of the KCNQ1 gene identified two novel KCNQ1 variants interpreted to be pathogenic, and the patient was finally diagnosed with Jervell and Lange-Nielsen syndrome. 27868350 2017
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 Biomarker disease CLINGEN Sequencing of the KCNQ1 gene identified two novel KCNQ1 variants interpreted to be pathogenic, and the patient was finally diagnosed with Jervell and Lange-Nielsen syndrome.© 2016 Wiley Periodicals, Inc. 27868350 2017
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease BEFREE Several missense variants are reported to cause RWS by a dominant-negative mechanism, and some KCNQ1 variants can cause both Jervell and Lange-Nielsen Syndrome (JLNS; in an autosomal recessive manner) and LQTS1 (in an autosomal dominant manner), while other KCNQ1 variants cause only JLNS. 28595573 2017
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 Biomarker disease CLINGEN Three families of JLNS who presented with long QT and deafness and who carry homozygous, or compound heterozygous mutation in KCNQ1 gene were presented in this report. 29037160 2017
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1. 28264985 2017
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 Biomarker disease BEFREE 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: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 Biomarker disease BEFREE This was a retrospective review of 349 children with LQTS (mean age at diagnosis, 8.0 ± 5.7 years; mean corrected QT interval, 469 ± 51 ms; long QT syndrome type 1 [LQT1] in 46%, LQT2 in 31%, and LQT3 in 9%) evaluated from 2000 to 2013. 28416468 2017
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 Biomarker disease GENOMICS_ENGLAND Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis. 29097701 2017
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease BEFREE This study presents biallelic gene mutations in KCNQ1 in Asian Indian patients with AR JLNS and RWS. 27041150 2016
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 Biomarker disease CLINGEN This study presents biallelic gene mutations in KCNQ1 in Asian Indian patients with AR JLNS and RWS. 27041150 2016
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		1.000 GeneticVariation disease BEFREE In this prospective study, we report biallelic mutations in KCNQ1 in Indian patients with LQT1 syndrome. 27041150 2016
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 Biomarker disease CLINGEN Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in a mouse model of human Jervell and Lange-Nielsen deafness syndrome. 26084842 2015
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 Biomarker disease CLINGEN Novel mutations of KCNQ1 in Long QT syndrome. 24206879 2015
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 CausalMutation disease CLINVAR Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome. 24666684 2015