ANK2, ankyrin 2, 287

N. diseases: 71; N. variants: 37
Disease: Torsades de Pointes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes 		0.120 GeneticVariation disease BEFREE Mutations of the ANK2 gene in the rare condition Ankyrin-B syndrome result in loss of function of the ankyrin-B protein which in turn leads to abnormal regulation of intracellular sodium and calcium and a predisposition to cardiac arrhythmia including torsades de pointes. 25456501 2015
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes 		0.120 Biomarker disease LHGDN Six novel mutations--4 in ANK2, 1 in KCNQ1, and 1 in SCN5A--were found in the patients with TdP. 17161064 2006
CUI: C0040479
Disease: Torsades de Pointes
Torsades de Pointes 		0.120 Biomarker disease HPO