ANK2, ankyrin 2, 287

N. diseases: 71; N. variants: 37
Disease: Long QT Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.170 Biomarker disease BEFREE ANK2 functionally interacts with KCNH2 aggravating long QT syndrome in a double mutation carrier. 30929919 2019
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.170 GeneticVariation disease BEFREE We identified two new mutations (KCNQ1 gene) and 6 known mutations (AKAP9, ANK2, KCNE1 and KCNJ2 genes) in 4 out of 9 probands, some of which have already been described in association with LQTS. 28003625 2017
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.170 GeneticVariation disease BEFREE Loss-of-function variants in the ankyrin-B gene (ANK2) cause "ankyrin-B syndrome" (previously called type 4 long QT syndrome), manifested by a complex cardiac phenotype including ventricular arrhythmias and sudden cardiac death. 19394342 2009
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.170 Biomarker disease BEFREE Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of long QT syndrome. 18052691 2008
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.170 Biomarker disease BEFREE We performed a comprehensive screen of ANK2 in populations (control, congenital arrhythmia, drug-induced long-QT syndrome) of different ethnicities to discover unidentified ANK2 variants. 17242276 2007
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.170 GeneticVariation disease LHGDN Ankyrin-B gene mutation might not play the major role in LQTS in Japanese. 16864073 2006
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.170 GeneticVariation disease BEFREE Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects. 16253912 2005
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.170 GeneticVariation disease CLINVAR