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 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: 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 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: 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: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE Both epinephrine (EPI) and norepinephrine (NE) could directly inhibit breast cancer cell viability, as well as tumor growth <i>in vivo</i> EPI and NE activate the tumor suppressor Hippo signaling pathway, and the suppressive effect of exercise-conditioned serum was found to be mediated through phosphorylation and cytoplasmic retention of YAP and reduced expression of downstream target genes, for example, ANKRD1 and CTGF. 28887324 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 Biomarker group BEFREE Additionally, our data indicate that the tumor-suppressive effect of ANKRD1 depends on the presence of p53. 29179447 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE In EGFR-mutant NSCLC patients, ANKRD1 was overexpressed in the tumor after the failure of EGFR-TKI therapy, especially after long-duration EGFR-TKI treatments. 30291293 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE These findings suggest that ANKRD1, a gene not previously associated with ovarian cancer or with response to chemotherapy, is associated with treatment outcome, and decreasing ANKRD1 expression, or function, is a potential strategy to sensitize tumors to platinum-based drugs. 18980987 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE We wanted to assess the expression of CARPs VIII and XI in these tumors and study their association to different clinicopathological features and tumor-associated CAs II, IX and XII. 29792187 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 GeneticVariation group BEFREE CARP is a potential tumor suppressor in gastric carcinoma and a single-nucleotide polymorphism in CARP gene might increase the risk of gastric carcinoma. 24870804 2014
CUI: C0018801
Disease: Heart failure
Heart failure 		0.040 AlteredExpression disease BEFREE The ANKRD1 gene is over-expressed in heart failure in human and animal models. 19525294 2009
CUI: C0018801
Disease: Heart failure
Heart failure 		0.040 AlteredExpression disease BEFREE ANKRD1 and RHOU mRNA levels were related with LV function which emphasizes their relevance in HF. 24709777 2014
CUI: C0018801
Disease: Heart failure
Heart failure 		0.040 Biomarker disease BEFREE The upregulation of nuclear CARP expression and positive correlation between cardiac CARP and proANP suggests that CARP may be used as a genetic marker existing in the nuclei in contrast to proANP existing in the cytosol of cardiac cells in heart failure patients. 19359327 2009
CUI: C0018801
Disease: Heart failure
Heart failure 		0.040 Biomarker disease 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: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.040 AlteredExpression disease BEFREE The ANKRD1 gene is over-expressed in heart failure in human and animal models. 19525294 2009
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.040 Biomarker disease 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: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.040 Biomarker disease BEFREE The upregulation of nuclear CARP expression and positive correlation between cardiac CARP and proANP suggests that CARP may be used as a genetic marker existing in the nuclei in contrast to proANP existing in the cytosol of cardiac cells in heart failure patients. 19359327 2009
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.040 AlteredExpression disease BEFREE ANKRD1 and RHOU mRNA levels were related with LV function which emphasizes their relevance in HF. 24709777 2014
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.030 GeneticVariation disease BEFREE On the basis of genetic and functional analysis of CARP mutations, we have identified ANKRD1 as a new gene associated with DCM, accounting for approximately 2% of cases. 19525294 2009
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.030 GeneticVariation disease BEFREE According to our epidemiological data, the prevalence of ANKRD1 mutations seems to be lower than that of its binding partner myopalladin, indicating the clinical significance of myopalladin for the functional integrity of the sarcomeric apparatus and the protection against DCM. 22892539 2013
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.030 GeneticVariation disease BEFREE The ANKRD1 mutations may cause DCM as a result of disruption of the normal cardiac stretch-based signaling. 19608030 2009
CUI: C4551903
Disease: Total anomalous pulmonary venous return
Total anomalous pulmonary venous return 		0.030 GeneticVariation disease 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