MMP14, matrix metallopeptidase 14, 4323

N. diseases: 340; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777039
rs587777039
Entrez Id: 4323
Gene Symbol: MMP14
MMP14
CUI: C0432289
Disease:
Winchester syndrome (disorder) 		0.800 GeneticVariation UNIPROT Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome. 22922033 2012
dbSNP: rs587777039
rs587777039
Entrez Id: 4323
Gene Symbol: MMP14
MMP14
CUI: C0432289
Disease:
Winchester syndrome (disorder) 		G 0.800 CausalMutation CLINVAR
dbSNP: rs17880989
rs17880989
Entrez Id: 4323
Gene Symbol: MMP14
MMP14
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1004030
rs1004030
Entrez Id: 4323
Gene Symbol: MMP14
MMP14
CUI: C0600139
Disease:
Prostate carcinoma 		T 0.700 GeneticVariation GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
dbSNP: rs17880989
rs17880989
Entrez Id: 4323
Gene Symbol: MMP14
MMP14
CUI: C0428883
Disease:
Diastolic blood pressure 		A 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
dbSNP: rs1042704
rs1042704
Entrez Id: 4323
Gene Symbol: MMP14
MMP14
CUI: C0013312
Disease:
Dupuytren Contracture 		A 0.700 GeneticVariation GWASCAT A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis. 28886342 2017
dbSNP: rs17884841
rs17884841
Entrez Id: 4323
Gene Symbol: MMP14
MMP14
CUI: C0428474
Disease:
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs17884841
rs17884841
Entrez Id: 4323
Gene Symbol: MMP14
MMP14
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs17884841
rs17884841
Entrez Id: 4323
Gene Symbol: MMP14
MMP14
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs2236307
rs2236307
Entrez Id: 4323
Gene Symbol: MMP14
MMP14
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE We found that women with CC genotype in rs2236307 SNP exhibited a more risk to develop cervical neoplasia as compared with those with wild genotype TT. 22527983 2012
dbSNP: rs2236302
rs2236302
Entrez Id: 4323
Gene Symbol: MMP14
MMP14
CUI: C0279628
Disease:
Adenocarcinoma Of Esophagus 		0.010 GeneticVariation BEFREE Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P < .05 after adjusting for co-variates and false discovery rate). 21472143 2011