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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 AlteredExpression group BEFREE ANKRD1 was expressed in the majority of ovarian adenocarcinomas tested (62/71, 87%), and higher tumor levels of ANKRD1 were found in patients with worse outcome (overall survival, P=0.013). 18980987 2008
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
Arrhythmogenic Right Ventricular Dysplasia
0.010 Biomarker disease BEFREE Regression analysis showed a positive correlation between CARP and proANP in ARVC failing hearts. 19359327 2009
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.010 Biomarker disease BEFREE There are no reports on CARPs in human astrocytomas or oligodendroglial tumors. 29792187 2018
CUI: C0004134
Disease: Ataxia
Ataxia
0.010 Biomarker phenotype BEFREE Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish. 23087022 2013
CUI: C0344730
Disease: Atrial Septal Defect Sinus Venosus
Atrial Septal Defect Sinus Venosus
0.010 Biomarker disease BEFREE ANKRD1 transgenic mice present sinus venosus defect, which originates during development by impaired remodeling of early embryonic heart. 31688894 2019
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma
0.010 AlteredExpression disease BEFREE Congener- and concentration-dependent antagonism of 17beta-estradiol (E2)-induced gene expression, rather than induction of ER-dependent gene expression, was observed for the MeSO(2)-PCBs on lucifierase activity in stably transfected human breast adenocarcinoma T47D cells (ER-CALUX) and vitellogenin (vtg) production in primary hepatocytes from male carp fish (Cyprinus carpio) (CARP-HEP/vtg). 12377985 2002
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE Thus, more studies concerning role of CARPs in oncogenesis are needed. 29792187 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 GeneticVariation disease BEFREE Ankyrin Repeat Domain 1 Overexpression is Associated with Common Resistance to Afatinib and Osimertinib in EGFR-mutant Lung Cancer. 30291293 2018
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: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.320 Biomarker group GENOMICS_ENGLAND
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 Biomarker group HPO
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: 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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.020 Biomarker group BEFREE The current views on the actions of ANKRD1 in cardiovascular disease and its utility as a candidate cardiac biomarker with diagnostic and/or prognostic potential are also discussed. 28672880 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.020 AlteredExpression group BEFREE Previous studies have demonstrated that CARP is up-regulated in some cardiovascular disorders and muscle diseases; however, its role in these diseases remains controversial now. 27143260 2016
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.010 Biomarker phenotype BEFREE Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish. 23087022 2013
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 Biomarker group BEFREE Cationic arginine-rich and poly-arginine peptides (referred to as CARPs) have potent neuroprotective properties in in vitro excitotoxicity and in vivo models of stroke. 29177102 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 PosttranslationalModification disease BEFREE We identified two regions in MUC2 promoter, region A (-289 and -274) and region C (-193 and -160), that correlated with loss of MUC2 expression by comparing the methylation status in 13 CRC cell lines with no or low MUC2 expression and those in 4 cell lines with high MUC2 expression. 20198318 2010