Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.490 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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.490 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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.490 Biomarker disease BEFREE How these PHACTR1 SNPs influence CAD/MI risk, and whether PHACTR1 itself is the causal gene at the locus, is currently unknown. 25838425 2015
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.490 GeneticVariation disease BEFREE The rs12526453 Polymorphism in an Intron of the PHACTR1 Gene and Its Association with 5-Year Mortality of Patients with Myocardial Infarction. 26086777 2015
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.490 Biomarker disease CTD_human In human subjects, MI associated PHACTR1 allele was not associated significantly with cardiac function (n = 1550). 26098115 2015
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.490 GeneticVariation disease BEFREE In human subjects, MI associated PHACTR1 allele was not associated significantly with cardiac function (n = 1550). 26098115 2015
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.490 GeneticVariation disease GWASCAT A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. 26343387 2015
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.490 GeneticVariation disease BEFREE Comparisons of allele frequencies by the χ(2) test revealed that rs9369640 of the phosphatase and actin regulator 1 gene (PHACTR1, FDR=0.0007), rs4977574 of the CDKN2B antisense RNA 1 gene (CDKN2B-AS1, FDR=0.0038), rs264 of the lipoprotein lipase gene (LPL, FDR=0.0061), rs599839 of the proline/serine-rich coiled-coil 1 gene (PSRC1, FDR=0.0118), rs9319428 of the fms-related tyrosine kinase 1 gene (FLT1, FDR=0.0118) and rs12413409 of the cyclin and CBS domain divalent metal cation transport mediator 2 gene (CNNM2, FDR=0.0300) were significantly associated with MI. 25738804 2015
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.490 GeneticVariation disease BEFREE Besides the CAD/MI SNP at 9p21 (rs4977574, P = 3.1 × 10(-10)), two additional loci at ADAMTS7 (rs3825807, P = 6.5 × 10(-6)) and at PHACTR1 (rs12526453, P = 1.0 × 10(-3)) show a nominally significant association with coronary artery calcification with MI/CAD risk alleles increasing the degree of arterial calcification. 23561647 2013
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.490 GeneticVariation disease BEFREE The GWAS discovered MI risk variant at 6p24 in the protein phosphatase 1 regulator gene (PHACTR1) is associated with adverse arterial wave reflection indexes and may mediate MI risk through this pathway. 22513829 2012
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.490 GeneticVariation disease BEFREE SNPs in the 9p21 and PHACTR1 gene loci were strongly associated with CAC and MI, and there are suggestive associations with both CAC and MI of SNPs in additional loci. 22144573 2011
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.490 Biomarker disease CTD_human Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 19198609 2009
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.490 GeneticVariation disease GWASCAT Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 19198609 2009
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.490 GeneticVariation disease GWASDB Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 19198609 2009