ANKRD1, ankyrin repeat domain 1, 27063

N. diseases: 65; N. variants: 4
Disease: Cardiomyopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.320 GeneticVariation group BEFREE Increased ANKRD1 levels linked to gain of function mutations have been associated to total anomalous pulmonary venous return and adult cardiomyopathy occurrence in humans. 31688894 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.320 Biomarker group BEFREE Importantly, cardiac ANKRD1 has been shown to be highly induced in various cardiomyopathies and in heart failure, although it is still unclear what impact this may have on the pathophysiology of heart failure. 28672880 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.320 Biomarker group GENOMICS_ENGLAND