MMP14, matrix metallopeptidase 14, 4323

N. diseases: 340; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder) 		0.710 GeneticVariation disease UNIPROT Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. 22922033 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.400 GeneticVariation disease BEFREE Our data indicate that mutant MT1-MMP lacking the cytoplasmic tail is recruited to the caveolae-enriched lipid raft membrane microdomains in breast carcinoma MCF7 cells. 14729059 2004
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.310 GeneticVariation disease BEFREE MMP14 gene polymorphisms in chronic obstructive pulmonary disease. 16525718 2006
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.310 GeneticVariation disease LHGDN MMP14 gene polymorphisms in chronic obstructive pulmonary disease. 16525718 2006
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.230 GeneticVariation disease BEFREE The traditional atherosclerosis risk factors were recorded, and the MMP 14 polymorphism were genotyped by Applied Biosystems 7300 Real-Time PCR System using the TaqMan assay. 24472034 2014
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0013312
Disease: Dupuytren Contracture
Dupuytren Contracture 		0.100 GeneticVariation disease GWASCAT A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis. 28886342 2017
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma 		0.100 GeneticVariation disease BEFREE Accordingly, overexpression of a nonphosphorylable MT1-MMP mutant (Y573F) blocked sphingosine-1-phosphate-induced migration of Human umbilical vein endothelial cells and HT-1080 (human fibrosarcoma) cells and failed to stimulate migration of cells lacking the enzyme (bovine aortic endothelial cells). 17389600 2007
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.100 GeneticVariation phenotype BEFREE The expression of matrix metalloproteinase (MMP) 2, MMP-9 and membrane type 1 matrix metalloproteinase (MT1-MMP) is a known risk factor for metastatic disease. 16563723 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE While the β catenin signaling pathway is associated with well- and moderately differentiated HCCs, mutations involving p53 (tumor protein 53 gene), MMP14 (matrix metalloproteinase 14 gene), and RhoC (Ras homolog gene family, member C) are associated with larger tumor size, higher tumor grade with resultant shortened tumor-free survival, and poor prognosis. 21339346 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Therefore, we investigated the influence of the MT1-MMP gene polymorphisms on the susceptibility and clinicopathological variables of cervical neoplasia for women in Taiwan. 22527983 2012
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		0.100 GeneticVariation disease BEFREE Accordingly, overexpression of a nonphosphorylable MT1-MMP mutant (Y573F) blocked sphingosine-1-phosphate-induced migration of Human umbilical vein endothelial cells and HT-1080 (human fibrosarcoma) cells and failed to stimulate migration of cells lacking the enzyme (bovine aortic endothelial cells). 17389600 2007
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.100 GeneticVariation phenotype BEFREE In contrast, both the C574A and E240A mutations render MT1-MMP inefficient in stimulating cell migration and invasion. 11335709 2001
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.100 GeneticVariation phenotype BEFREE Moreover, suppression of endogenous URG11 expression results in decreased activation of beta-catenin/TCF and its downstream effector genes, cyclinD1 and membrane type 1 matrix metallopeptidase (MT1-MMP), which are known to be involved in cell proliferation and invasion, respectively. 19413886 2010
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.100 GeneticVariation disease BEFREE The +6767 and +7096 polymorphic genotypes and haplotype -165 T: +221 T: +6727 C: +6767 G: +7096 T: +8153 G of MMP14 gene might contribute to the prediction of susceptibility and pathological development to HCC. 21298348 2011
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.080 GeneticVariation disease BEFREE MMP-14 +7096 TC/CC genotypes might lower the risk of OSCC, and MMP-14 +6767 GA/AA genotypes cause a poor clinical status in OSCC patients. 21512861 2012
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.070 GeneticVariation disease BEFREE Polymorphisms in MMP-14 and MMP-2 genes and ovarian cancer survival. 31282404 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.050 GeneticVariation disease BEFREE Emerging Alternative Proteinases in APP Metabolism and Alzheimer's Disease Pathogenesis: A Focus on MT1-MMP and MT5-MMP. 31607898 2019
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.050 GeneticVariation disease BEFREE Polymorphisms in MMP-14 and MMP-2 genes and ovarian cancer survival. 31282404 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.040 GeneticVariation disease BEFREE The traditional atherosclerosis risk factors were recorded, and the MMP 14 polymorphism were genotyped by Applied Biosystems 7300 Real-Time PCR System using the TaqMan assay. 24472034 2014
CUI: C0011847
Disease: Diabetes
Diabetes 		0.040 GeneticVariation disease BEFREE Genetic associations between MMP14 gene common variants and obesity or diabetes traits were examined in a Japanese cohort (n = 3,653). 20660624 2010