ANK2, ankyrin 2, 287

N. diseases: 71; N. variants: 37
Disease: Atrial Fibrillation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.140 Biomarker disease BEFREE Recently, Ankyrin‑B (Ank‑B), an adaptor protein, has been demonstrated to be associated with AF. 29658562 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.140 GeneticVariation disease BEFREE Two variants have been previously reported; one is associated with atrial fibrillation (SCN5A_p.H445D), and the other is predicted to be benign (ANK2_p.T2059M). 28086167 2017
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.140 GeneticVariation disease BEFREE Ankyrin-B (encoded by ANK2) loss-of-function mutations are directly associated with human cardiovascular phenotypes including sinus node disease, atrial fibrillation, ventricular tachycardia, and sudden cardiac death. 22778271 2012
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.140 Biomarker disease BEFREE Moreover, ankyrin-B(+/-) atrial myocytes display shortened action potentials, consistent with human AF. 21859974 2011
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.140 Biomarker disease HPO