ANKRD1, ankyrin repeat domain 1, 27063

N. diseases: 65; N. variants: 4
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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.320 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.320 Biomarker disease CLINGEN Impact of ANKRD1 mutations associated with hypertrophic cardiomyopathy on contraction parameters of engineered heart tissue. 23572067 2013
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.320 GeneticVariation disease BEFREE In the present study, we investigated whether expression of HCM-associated ANKRD1 mutations affects contraction parameters after gene transfer in engineered heart tissues (EHTs). 23572067 2013
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.320 Biomarker disease BEFREE CARP abnormalities may be involved in the pathogenesis of HCM. 19608031 2009
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.320 Biomarker disease CLINGEN Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. 19608031 2009
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.320 Biomarker group GENOMICS_ENGLAND
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.300 Biomarker disease CTD_human Unique transcriptome, pathways, and networks in the human endometrial fibroblast response to progesterone in endometriosis. 20864642 2011
CUI: C0269102
Disease: Endometrioma
Endometrioma 		0.300 Biomarker disease CTD_human Unique transcriptome, pathways, and networks in the human endometrial fibroblast response to progesterone in endometriosis. 20864642 2011
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy. 19525294 2009
CUI: C4551904
Disease: Total Anomalous Pulmonary Venous Return 1
Total Anomalous Pulmonary Venous Return 1 		0.300 GeneticVariation disease UNIPROT Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return. 18273862 2008
CUI: C0027055
Disease: Myocardial Reperfusion Injury
Myocardial Reperfusion Injury 		0.200 Biomarker phenotype RGD Involvement of GADD153 and cardiac ankyrin repeat protein in cardiac ischemia-reperfusion injury. 19299913 2009
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		0.200 Biomarker phenotype RGD Cardiac ankyrin repeat protein is a novel marker of cardiac hypertrophy: role of M-CAT element within the promoter. 10904011 2000
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.130 Biomarker group BEFREE MLP and CARP are linked to chronic PKCα signalling in dilated cardiomyopathy. 27353086 2016
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.130 Biomarker group BEFREE We evaluated ankyrin repeat domain 1 (ANKRD1), the gene encoding cardiac ankyrin repeat protein (CARP), as a novel candidate gene for dilated cardiomyopathy (DCM) through mutation analysis of a cohort of familial or idiopathic DCM patients, based on the hypothesis that inherited dysfunction of mechanical stretch-based signaling is present in a subset of DCM patients. 19608030 2009
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.130 GeneticVariation group BEFREE Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy. 19525294 2009
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.130 Biomarker group HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.100 Biomarker disease HPO
CUI: C0026848
Disease: Myopathy
Myopathy 		0.100 Biomarker group HPO
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker phenotype HPO
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		0.100 Biomarker phenotype HPO
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		0.100 Biomarker disease HPO