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 Biomarker disease GENOMICS_ENGLAND Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. 22922033 2012
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder)
0.710 Biomarker disease CTD_human
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: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder)
0.710 CausalMutation disease CLINVAR
CUI: C0432289
Disease: Winchester syndrome (disorder)
Winchester syndrome (disorder)
0.710 AlteredExpression disease BEFREE Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype. 29741626 2018
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
0.010 AlteredExpression disease BEFREE To our knowledge, this is the first report to show direct regulation of MT1-MMP by HIF-2 and to provide a direct link between the loss of VHL tumor suppressor function and an increase in MMP gene and protein expression. 15592504 2005
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.100 Biomarker group HPO
CUI: C0947751
Disease: Vascular inflammations
Vascular inflammations
0.010 Biomarker phenotype BEFREE The membrane metalloproteinase 14 (MMP14 or MT1-MMP) targets endoglin to release soluble endoglin and is involved in vascular inflammation and endothelial tubulogenesis. 26850053 2016
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
0.010 Biomarker group LHGDN Altogether these findings highlight a pivotal role for furin, MT1-MMP, and MMP2 in TNF-alpha-induced sphingolipid signaling, and they identify this system as a possible target to inhibit SMC proliferation in vascular diseases. 17283058 2007
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.010 AlteredExpression group BEFREE Expression Levels of Myostatin and Matrix Metalloproteinase 14 mRNAs in Uterine Leiomyoma are Correlated With Dysmenorrhea. 26138721 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.010 Biomarker disease BEFREE After correcting for multiple testing SNPs in MMP-3, MMP-8, MMP-10, and MMP-14 remained significant in their associations with UC. 21925226 2011
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE Despite in vitro studies demonstrating this principle, this knowledge has not translated into the use of MMP inhibitors (MMPi) as effective cancer therapeutics, or been corroborated by evidence of in vivo ECM degradation mediated by MT1-MMP, suggesting that our understanding of the role of MT1-MMP in cancer progression is incomplete. 27756325 2016
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE To explore the role of up-regulated MT1-MMP in early stage cancer progression, we have employed a three-dimensional cell culture model. 18174174 2008
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 AlteredExpression phenotype BEFREE Further, we suggest a role for MT1-MMP in early tumour progression, expression of MMP-1 during metastasis and focal expression pattern of MMP-3 in areas of expansion. 17669621 2008
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE Membrane type I matrix metalloproteinase (MT1-MMP) contributes to tumor progression directly, or by processing the latent MMP-2 zymogen, and is a known target of β-catenin signaling. 21239435 2011
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE Matrix metalloproteinase-14 (MMP-14) is a clinically relevant target in metastatic cancers due to its role in tumor progression and metastasis. 28938563 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE The purpose of this study is to investigate the role of MMP14 in tumor progression and prognosis of gastric cancer. 25748728 2015
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE Fibroblast-derived MT1-MMP promotes tumor progression in vitro and in vivo. 16515711 2006
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 AlteredExpression phenotype BEFREE Although MT1-MMP is upregulated in malignant melanoma, the biological consequences of elevated MT1-MMP expression for tumor progression are not entirely understood. 14962105 2004
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE These results indicate MT2-MMP might be involved in the cancer progression more than or equal to MT1-MMP independently of MMP-2 and MT1-MMP. 20117087 2010
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE Together, these findings suggest that MT1-MMP surface action is regulated by phosphorylation at cytoplasmic tail residue Thr(567) and that this modification plays a critical role in processes that are linked to tumor progression. 19458085 2009
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE MT1-MMP (or MMP-14), which has been implicated in tumor progression and cellular invasion, contains a membrane-spanning region located C-terminal to a hemopexin-like domain and an N-terminal catalytic domain. 28299732 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 AlteredExpression phenotype BEFREE In the present study, we examined the effects of the alpha3(IV) chain on the invasive properties of bronchial tumor cell lines, with special emphasis on their expression of matrix metalloproteinase-2 (MMP-2) and its activator, membrane type 1-matrix metalloproteinase (MT1-MMP), which is largely involved in tumor progression. 11232638 2001
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 Biomarker phenotype BEFREE Here we show that RECK regulates two other MMPs, MMP-2 and MT1-MMP, known to be involved in cancer progression, that mice lacking a functional RECK gene die around E10.5 with defects in collagen fibrils, the basal lamina, and vascular development, and that this phenotype is partially suppressed by MMP-2 null mutation. 11747814 2001
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.100 AlteredExpression phenotype BEFREE The activated MT1-MMP expression had dual effects on cancer progression. 23357422 2013