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: 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 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 Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. 19608031 2009
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.320 Biomarker group GENOMICS_ENGLAND
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: 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: 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: 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: 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
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.100 Biomarker disease HPO
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 AlteredExpression disease LHGDN We found that CARP was aberrantly expressed in atrophic skeletal muscle fibers in ALS. 12679596 2003
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.010 AlteredExpression disease LHGDN Upregulated expression of cardiac ankyrin-repeated protein in renal podocytes is associated with proteinuria severity in lupus nephritis. 17239933 2007
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		0.010 AlteredExpression disease LHGDN Upregulated expression of cardiac ankyrin-repeated protein in renal podocytes is associated with proteinuria severity in lupus nephritis. 17239933 2007
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.010 GeneticVariation group LHGDN Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return. 18273862 2008
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		0.010 AlteredExpression disease LHGDN Upregulated expression of cardiac ankyrin-repeated protein in renal podocytes is associated with proteinuria severity in lupus nephritis. 17239933 2007
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: 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