MMP2, matrix metallopeptidase 2, 4313

N. diseases: 628; N. variants: 23
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
0.780 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
0.780 GeneticVariation disease BEFREE Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy. 25273674 2015
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.780 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
0.780 GeneticVariation disease BEFREE MMP2 gene sequence analysis excluded multicentric osteolysis, nodulosis and arthropathy. 20560960 2011
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.780 GeneticVariation disease BEFREE A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. 20720557 2011
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.780 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
0.780 GeneticVariation disease BEFREE Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. 17059372 2007
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.780 CausalMutation disease CLINVAR Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. 17059372 2007
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.780 GeneticVariation disease BEFREE Sequence analysis of the matrix metalloproteinase 2 gene shows sporadic idiopathic multicentric osteolysis with nephropathy is not allelic to nodulosis-arthropathy-osteolysis syndrome. 17563705 2007
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.780 CausalMutation disease CLINVAR 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
0.780 CausalMutation disease CLINVAR We identified mutations in the MMP2 gene in a patient with Torg syndrome that resulted in complete loss of MMP2 activity. 17059372 2007
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.780 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
0.780 CausalMutation disease CLINVAR 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
0.780 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
0.780 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
0.780 CausalMutation disease CLINVAR 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
0.780 CausalMutation disease CLINVAR Structure of human pro-matrix metalloproteinase-2: activation mechanism revealed. 10356396 1999
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.780 CausalMutation disease CLINVAR An interactive computer graphics study of thermolysin-catalyzed peptide cleavage and inhibition by N-carboxymethyl dipeptides. 6525336 1984
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.780 GermlineCausalMutation disease ORPHANET
CUI: C1850155
Disease: TORG-WINCHESTER SYNDROME
TORG-WINCHESTER SYNDROME
0.780 Biomarker disease CTD_human
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 AlteredExpression disease BEFREE Speckle-Type POZ Protein Down-Regulates Matrix Metalloproteinase 2 Expression via Sp1/PI3K/Akt Signaling Pathway in Colorectal Cancer. 29260353 2018
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 Biomarker disease BEFREE TRIB1 promotes colorectal cancer cell migration and invasion through activation MMP-2 via FAK/Src and ERK pathways. 28624785 2018
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 GeneticVariation disease GWASCAT Genome-wide association study of colorectal cancer in Hispanics. 27207650 2017
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 Biomarker disease BEFREE TGFβR1 and MMP2/9 were the downstream targets of miR-490-3p in CRC. 26714817 2016
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
0.700 AlteredExpression disease BEFREE At the gene level, knockdown of NLK expression inhibited matrix metalloproteinase-2 expression in colorectal cancer cells. 26269673 2016