Source: ALL

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 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 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 UNIPROT A novel homozygous MMP2 mutation in a family with Winchester syndrome. 16542393

2006

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: 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 Biomarker CTD_human

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 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 CausalMutation CLINVAR

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation UNIPROT Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. 11431697

2001

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 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 Biomarker GENOMICS_ENGLAND

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.790 GeneticVariation UNIPROT Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. 15691365

2005

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker BEFREE Therefore, our study demonstrated that MMP2 is an important factor related to carcinogenesis and metastasis of CRC, and MMP2 promotes CRC cell growth and invasion by up-regulating VEGF and MT1-MMP expression, which makes this pathway a potential target for cancer treatment. 21968416

2011

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

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 AlteredExpression BEFREE In the present review, the clinical relevance and the prognostic value of messenger ribonucleic acid (mRNA) and protein expression and proenzyme activation of MMP-2 and MMP-9 are evaluated in relation to colorectal cancer. 15588763

2004

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 Biomarker BEFREE MMP-2 geno-phenotype is prognostic for colorectal cancer survival, whereas MMP-9 is not. 18506186

2008

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 Plasma MMP-2 levels were also significantly elevated in patients with colorectal cancer, with significant reductions following curative resections at all stages. 14520690

2003

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression BEFREE Down-regulation of DAB2IP correlated negatively with hnRNPK and MMP2 expressions in CRC tissues. 28335083

2017

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 AlteredExpression BEFREE In addition, we found that ING4 strongly inhibited CRC angiogenesis by suppressing Sp1 expression and transcriptional activity through ubiquitin degradation and down-regulating the expressions of Sp1 downstream pro-angiogenic genes, MMP-2 and COX-2. 27806345

2016

Entrez Id: 4313
Gene Symbol: MMP2
MMP2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 GeneticVariation BEFREE The MMP-2 C-1306T SNP is significantly associated with CRC in the Saudi population and this finding suggested that MMP-2 variants might help predict CRC progression risk among Saudis. 24289619

2013