KCNQ1-AS1, KCNQ1 antisense RNA 1, 338653

N. diseases: 6; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.100 GeneticVariation phenotype GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.100 GeneticVariation disease GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease CLINVAR Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome. 25187895 2014
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430 2013
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease CLINVAR Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. 23098067 2012
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease CLINVAR Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome. 19825999 2009
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease CLINVAR The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome. 16981927 2006
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 CausalMutation disease CLINVAR Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. 10024302 1999
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.100 GeneticVariation disease CLINVAR
CUI: C4551509
Disease: Jervell And Lange-Nielsen Syndrome 1
Jervell And Lange-Nielsen Syndrome 1 		0.100 CausalMutation disease CLINVAR
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 CausalMutation disease CLINVAR
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 GeneticVariation disease CLINVAR