Disease: Jervell-Lange Nielsen Syndrome ×
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 Biomarker disease CTD_human
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 Biomarker disease CLINGEN A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. 9020846 1997
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease BEFREE However, analysis of a single small consanguineous family excluded linkage to the KVLQT1 gene, establishing genetic heterogeneity in JLNS. 9328483 1997
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease BEFREE Mutations in the potassium-channel gene KVLQT1 (LQTS 1) have been identified in JLNS and in autosomal-dominant LQTS as well. 9341873 1997
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease BEFREE These findings provide the first evidence for a recessive form of the Romano-Ward long-QT syndrome and indicate that homozygous mutations on KVLQT1 do not invariably produce the Jervell and Lange-Nielsen syndrome. 9641694 1998
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 Biomarker disease BEFREE Two genes, KVLQT1 and minK, have been identified for Jervell and Lange-Nielsen syndrome. 9791861 1998
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease BEFREE Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. 10077519 1999
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 CausalMutation disease CLINVAR Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. 10482963 1999
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 CausalMutation disease CLINVAR Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome. 10560595 1999
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 Biomarker disease BEFREE The results provide a molecular basis for the clinical observation that heterozygous JLN carriers show slight cardiac dysfunctions and that the severe JLNS phenotype is characterized by the absence of KvLQT1 channel. 10654932 2000
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 CausalMutation disease CLINVAR Jervell and Lange-Nielsen syndrome: a Norwegian perspective. 10704188 1999
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease BEFREE Two families with the autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS), and one family with the autosomal dominant Romano-Ward syndrome (RWS) were evaluated for mutations in KCNQ1. 10737999 2000
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease BEFREE Recessive mutations in KVLQT1 cause Jervell and Lange-Nielsen syndrome, which is characterized by more severe arrhythmias and congenital neural deafness. 10868746 2000
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease BEFREE The much rarer Jervell-Lange-Nielsen syndrome (with marked QT prolongation and sensorineural deafness) arises when a child inherits mutant KVLQT1 or minK alleles from both parents. 10898405 2000
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 Biomarker disease MGD Mutations in KvLQT1 underlie the dominantly transmitted Ward-Romano long QT syndrome, which causes cardiac arrhythmia, and the recessively transmitted Jervell and Lange-Nielsen syndrome, which causes both cardiac arrhythmia and congenital deafness. 11120752 2000
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease BEFREE Truncation of the protein proximal to the recently identified C-terminal assembly domain is expected to preclude assembly of KCNQ1 monomers into tetramers and explains the recessive inheritance of JLNS. 11140949 2000
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease BEFREE A single missense mutation of the KCNQ1 gene accounts for 30% of Finnish cases with LQTS, and it may be associated with both the RWS and JLNS phenotypes of the syndrome. 11216980 2001
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 Biomarker disease CLINGEN KCNQ1/KCNE1 potassium channels in mammalian vestibular dark cells. 11223304 2001
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 Biomarker disease CLINGEN Together, these data suggest that Kcnq1(-/-) mice are a potentially valuable animal model of JLNS. 11226272 2001
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 Biomarker disease MGD Together, these data suggest that Kcnq1(-/-) mice are a potentially valuable animal model of JLNS. 11226272 2001
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 CausalMutation disease CLINVAR A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. 11530100 2001
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease BEFREE In this report we provide evidence that not only homozygous but also compound heterozygous mutations in KvLQT1 may cause JLNS in nonconsanguineous families. 12051962 2002
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease CLINVAR Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. 12051962 2002
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease LHGDN Novel compound heterozygous nonsense mutations in C-terminus of KCNQ1 can cause JLNS. 14510661 2003
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		1.000 GeneticVariation disease BEFREE Novel compound heterozygous nonsense mutations in C-terminus of KCNQ1 can cause JLNS. 14510661 2003