MMP2, matrix metallopeptidase 2, 4313

N. diseases: 1021; N. variants: 43
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation disease BEFREE A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy. 31268248 2019
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 Biomarker disease BEFREE We characterize the clinical, radiographic and molecular findings in all individuals with molecularly proven MONA from the present cohort and previous reports, and provide a comprehensive review of the MMP2 related disorders. 26601801 2016
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation disease BEFREE Here, we describe the molecular and functional analysis of a novel MMP2 mutation in two adult Italian siblings with MONA. 25273674 2014
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation disease BEFREE Torg syndrome is caused by homozygous or compound heterozygous mutations in the matrix metalloproteinase 2 (MMP2) gene. 24637309 2014
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation disease BEFREE MMP2 gene sequence analysis excluded multicentric osteolysis, nodulosis and arthropathy. 20560960 2010
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation disease BEFREE A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. 20720557 2010
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation disease BEFREE The two well-described osteolysis syndromes associated with matrix metalloproteinase-2 deficiency and mutations in the metalloproteinase-2 gene are Torg-Winchester syndrome and nodulosis-arthropathy-osteolysis variant. 19653001 2010
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation disease BEFREE We sequenced the MMP2 gene in a patient with clinical and radiographic findings of Torg syndrome. 17059372 2007
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation disease BEFREE We questioned whether sporadic idiopathic multicentric osteolysis with nephropathy is allelic with nodulosis-arthropathy osteolysis syndrome and undertook sequence analysis of the matrix metalloproteinase 2 gene in three unrelated affected boys. 17563705 2007
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation disease UNIPROT A novel homozygous MMP2 mutation in a family with Winchester syndrome. 16542393 2006
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation disease UNIPROT Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. 15691365 2005
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation disease UNIPROT Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. 11431697 2001
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 Biomarker disease CTD_human
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 CausalMutation disease CLINVAR
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 Biomarker disease GENOMICS_ENGLAND
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression disease BEFREE JMJD2D was required for expression of β-catenin in CRC cell lines; ectopic expression of JMJD2D increased the promoter activities of genes regulated by β-catenin (MYC, CCND1, MMP2, and MMP9). 30472235 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE In an analysis of the miRNA target genes, we found that CDH2, KNG1, and MMP2 were correlated with CRC metastasis. 30807603 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 AlteredExpression group BEFREE The present study therefore investigated whether aortic MMP-2 activity is increased by oxidative stress in early hypertension and then contributes to hypertrophic arterial remodeling by reducing the levels of calponin-1. 30339939 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 AlteredExpression group BEFREE Vascular MMP-2 expression and activity were assessed by gel zymography, Western blot, and in situ zymography increased with hypertension. 30399409 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation group BEFREE The associations of urinary cadmium with hypertension risk were modified by rs14070 (P-value for interaction = 0.022) and rs7201 (P-value for interaction = 0.009) in gene MMP-2. 30684802 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE The expressions of VEGF and MMP-2 in serum of CRC patients were correlated with the depth of tumor infiltration, Dukes' staging, CLM and lymph node metastasis (p<0.05). 29917190 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression disease BEFREE Twist1/2 activates MMP2 expression via binding to its promoter in colorectal cancer. 30556860 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker disease BEFREE Our findings in this study provide understanding of MMP2 regulation in CRC and may also shed lights on the development of anti-CRC treatments. 29260353 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression disease BEFREE Tumor and adjacent healthy tissues were obtained from 100 patients diagnosed with CRC. miR-466 expression was determined by quantitative reverse transcription polymerase chain reaction (qRT-PCR). mRNA and protein levels of cyclin D1, apoptosis regulator BAX (BAX), and matrix metalloproteinase-2 (MMP-2) were analyzed by qRT-PCR and Western blot, respectively, in SW-620 CRC cells transfected with miR-466 mimics or negative control miRNA. 29338680 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression disease BEFREE This resulted in the increased expression of matrix metalloproteinase 2 (MMP2), matrix metalloproteinase 9 (MMP9) and vascular endothelial growth factor (VEGF), and the subsequent promotion of CRC cell invasion. 30228782 2018