Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation BEFREE A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy. 31268248

2019

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 Biomarker 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

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation BEFREE Here, we describe the molecular and functional analysis of a novel MMP2 mutation in two adult Italian siblings with MONA. 25273674

2014

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation BEFREE Torg syndrome is caused by homozygous or compound heterozygous mutations in the matrix metalloproteinase 2 (MMP2) gene. 24637309

2014

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation BEFREE MMP2 gene sequence analysis excluded multicentric osteolysis, nodulosis and arthropathy. 20560960

2010

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation BEFREE A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. 20720557

2010

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation 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

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation BEFREE We sequenced the MMP2 gene in a patient with clinical and radiographic findings of Torg syndrome. 17059372

2007

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation 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

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression 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

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker BEFREE In an analysis of the miRNA target genes, we found that CDH2, KNG1, and MMP2 were correlated with CRC metastasis. 30807603

2019

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 AlteredExpression 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

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 AlteredExpression BEFREE Vascular MMP-2 expression and activity were assessed by gel zymography, Western blot, and in situ zymography increased with hypertension. 30399409

2019

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation 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

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker 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

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression BEFREE Twist1/2 activates MMP2 expression via binding to its promoter in colorectal cancer. 30556860

2018

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker 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

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression 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

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression 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

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker BEFREE ESCO2 inhibits tumor metastasis via transcriptionally repressing MMP2 in colorectal cancer. 30538563

2018

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker BEFREE We investigate redox state-superoxide (SO) generation rate, activity of complex I in electron transport chain (ETC) of mitochondria and of dinitrosyl iron complexes by electron paramagnetic resonance; activity of matrix metalloproteinase (gelatinase) MMP-2 and MMP-9 by gel zymography of adipose tissues (AT) from 46 patients (64.0 ± 1.6 y.o.) with CRC (II-III stages, pT2-3N0-2M0) in the AT adjacent to tumor (ATAT) and at a distance of 3 cm from the tumor (ATD) to follow the connection of the AT redox state with some of the tumor microenvironment indicators. 30581847

2018

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 AlteredExpression BEFREE MMP-2 activity of thoracic aorta showed no change after hypertension. 30336141

2018

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 Biomarker BEFREE Thus, PlGF reverses decreased vascular and uteroplacental MMP-2 and MMP-9 and increased MMP-1, MMP-7, and collagen types I and IV induced by placental ischemia and sFlt-1 in HTN in pregnancy. 29569955

2018

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 GeneticVariation BEFREE We conducted a case-control genetic association study, adjusted for known IA risk factors (smoking and hypertension), in a UK Caucasian population of 1409 patients with intracranial aneurysms (IA), and 1290 matched controls, to determine the association of the rs243865 C > T functional MMP-2 gene SNP with IA (overall, and classified as ruptured and unruptured). 29334797

2018

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker BEFREE In the present study, we investigate whether MMP-2 SNP, MMP-2 mRNAs, and MMP-2 protein are associated with the susceptibility to colorectal cancer in the Tunisian population. 27922483

2017