Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease BEFREE Phosphatase and actin regulator 1 rs9349379 polymorphism is associated with an elevated susceptibility to coronary artery disease: a meta-analysis. 31278837 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease BEFREE PHACTR1 intronic variants have been associated with coronary artery disease and carotid dissection. 31200082 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease BEFREE PHACTR1 gene polymorphism with the risk of coronary artery disease in Chinese Han population. 30777881 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease BEFREE PHACTR1 genotype predicts coronary artery disease in patients with familial hypercholesterolemia. 29784573 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease BEFREE Genome-wide association studies have showed that genetic variants in phosphatase and actin regulator 1 (PHACTR1) are associated with coronary artery disease and myocardial infarction. 30293016 2018
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease BEFREE Genome-wide association studies (GWASs) implicate the PHACTR1 locus (6p24) in risk for five vascular diseases, including coronary artery disease, migraine headache, cervical artery dissection, fibromuscular dysplasia, and hypertension. 28753427 2017
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease BEFREE PHACTR1 and SLC22A3 gene polymorphisms are associated with reduced coronary artery disease risk in the male Chinese Han population. 27893421 2017
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease BEFREE Recent genome-wide association studies (GWAS) in European populations have indicated that the rs12526453 polymorphism located in phosphatase and actin regulator 1 gene (PHACTR1), mapping to chromosome 6p24 and rs7865618 polymorphism in the cyclin-dependent kinase inhibitor B antisense RNA 1 gene (CDKN2B-AS1) on 9p21.3 are associated with coronary heart disease (CHD). 28287809 2017
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease BEFREE Coronary artery disease associated gene Phactr1 modulates severity of vascular calcification in vitro. 28720499 2017
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease BEFREE The top variant, rs9349379, is intronic to PHACTR1, a risk locus for coronary artery disease, migraine, and cervical artery dissection. 27792790 2016
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease BEFREE Recently, certain polymorphisms in the phosphatase and actin regulator 1 (PHACTR1) gene have been shown to be associated with CVD (i.e., coronary artery disease, coronary artery calcification, early onset myocardial infarction, cervical artery dissection and hypertension) in different ethnic groups. 27876132 2016
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease BEFREE I have read with interest the recent paper by Han and coworkers on the putative effects of a PHACTR1 variant in the context of coronary artery disease. 25938970 2015
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease BEFREE The phosphatase and actin regulator 1 (PHACTR1) locus is a very commonly identified hit in genome-wide association studies investigating coronary artery disease and myocardial infarction (MI). 26098115 2015
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease GWASCAT Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 24262325 2014
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 Biomarker disease BEFREE Four SNPs in regions previously implicated in CAC/CHD (at 9p21 and PHACTR1) in EA reached nominal significance for CAC in AA, with concordant direction. 23870195 2013
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease BEFREE We demonstrate that SNPs near 9p21 and in PHACTR1 that have previously been shown to be associated with CHD are strongly associated with CAC in the Heinz Nixdorf Recall Study cohort. 23394302 2013
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease GWASDB Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. 22751097 2012
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease GWASCAT Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. 22751097 2012
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease GWASDB Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis. 22745674 2012
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease GWASCAT Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis. 22745674 2012
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease GWASCAT A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. 21378988 2011
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease GWASDB A genome-wide association study in europeans and South asians identifies 5 new Loci for coronary artery disease. 21846871 2011
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease BEFREE Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-PSRC1-SORT1), rs2259816 (HNF1A), and rs11206510 (PCSK9) showed directionally consistent associations with CHD in the 3 studies, with combined odds ratios (ORs) ranging from 1.17 to 1.25 (p = 0.03 to 0.0002). 22152955 2011
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.200 GeneticVariation disease GWASCAT Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. 21378990 2011