MIA3, MIA SH3 domain ER export factor 3, 375056

N. diseases: 27; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma
0.040 Biomarker disease BEFREE Melanoma inhibitor protein 3 (MIA3) is required for the export of collagen VlI (COL7A1) from the endoplasmic reticulum and it appears to be a tumor suppressor of malignant melanoma. 22577832 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE TANGO is a tumor suppressor of malignant melanoma. 17044017 2006
CUI: C0025202
Disease: melanoma
melanoma
0.040 Biomarker disease BEFREE TANGO is a tumor suppressor of malignant melanoma. 17044017 2006
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.440 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
0.430 GeneticVariation disease GWASCAT A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. 26343387 2015
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.150 GeneticVariation disease GWASDB A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex. 22319020 2012
CUI: C0205748
Disease: Dysplastic Nevus
Dysplastic Nevus
0.010 Biomarker disease BEFREE A small reduction of TANGO was also seen in different benign and atypical nevi when compared to normal skin. 17044017 2006
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.440 GeneticVariation disease BEFREE Aim was to estimate the genotypic distribution and risk allele frequencies of 13 Coronary Artery Disease (CAD) risk Single Nucleotide Polymorphisms in loci identified by the CARDIoGRAMplusC4D consortium namely MIA3 rs17465637; 9p21 rs10757274; CXCL12 rs1746048; APOA5 rs662799; APOB rs1042031; LPA rs3798220; LPA 10455872; MRAS rs9818870; LPL rs328; SORT1 rs646776; PCSK9 rs11591147; APOE rs429358; APOE rs7412 in Pakistani PCAD patients and controls. 28705542 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.440 GeneticVariation disease GWASCAT Association analyses based on false discovery rate implicate new loci for coronary artery disease. 28714975 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.020 GeneticVariation group BEFREE Association study of MIA3 rs17465637 polymorphism with cardiovascular disease in rheumatoid arthritis patients. 22577832 2012
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.020 Biomarker disease BEFREE Both ADTRP and MIA3/TANGO1 are involved in endothelial cell (EC) functions relevant to atherosclerosis. 28341552 2017
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.020 Biomarker disease BEFREE Both ADTRP and MIA3/TANGO1 are involved in endothelial cell (EC) functions relevant to atherosclerosis. 28341552 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.020 GeneticVariation group BEFREE Candidate genes, including SNP markers rs1333049 (CDKN2B, 9p21.3), rs17465637 (MIA3, 1q41) and rs501120 (CXCL12, 10q11.21), were genotyped to analyze the association with future CVD. 31804579 2019
CUI: C0919890
Disease: Hyperfibrinogenemia
Hyperfibrinogenemia
0.010 GeneticVariation disease BEFREE Differences in the function and secretion of congenital aberrant fibrinogenemia between heterozygous γD320G (Okayama II) and γΔN319-ΔD320 (Otsu I). 26573395 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.440 GeneticVariation disease GWASCAT Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. 30104761 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.010 GeneticVariation disease BEFREE Functional annotation using DAVID and TANGO demonstrated immune response alterations in AMD monocytes (FDR-P <0.05), validated by randomized data comparison (P < 0.0001). 27374485 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE Functionally, the effect of USF2 knockdown on proliferation, motility, and clonogenic survival of HIF2-dependent tumor cells in vitro is phenocopied by HIF2α knockdown, indicating that USF2 works with HIF2 to activate HIF2 target genes and to drive HIF2-depedent tumorigenesis. 22966206 2012
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.430 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
0.430 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
0.430 GeneticVariation disease GWASDB Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 19198609 2009
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.440 GeneticVariation disease BEFREE Genome-wide association studies have described an association between MIA3 rs17465637 A/C polymorphisms and coronary artery disease and myocardial infarction. 22577832 2012
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.330 GeneticVariation disease BEFREE Genome-wide association studies have described an association between MIA3 rs17465637 A/C polymorphisms and coronary artery disease and myocardial infarction. 22577832 2012
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.150 GeneticVariation disease BEFREE Genome-wide association studies have described an association between MIA3 rs17465637 A/C polymorphisms and coronary artery disease and myocardial infarction. 22577832 2012
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.430 GeneticVariation disease BEFREE Genome-wide association studies have described an association between MIA3 rs17465637 A/C polymorphisms and coronary artery disease and myocardial infarction. 22577832 2012
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.150 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