MMP13, matrix metallopeptidase 13, 4322

N. diseases: 328; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909497
rs121909497
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C1865832
Disease:
Spondyloepimetaphyseal Dysplasia, Missouri Type 		G 0.800 CausalMutation CLINVAR
dbSNP: rs140059558
rs140059558
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432225
Disease:
Metaphyseal chondrodysplasia Spahr type 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121909498
rs121909498
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C4016643
Disease:
METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121909499
rs121909499
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C4016643
Disease:
METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121909500
rs121909500
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432225
Disease:
Metaphyseal chondrodysplasia Spahr type 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1565256477
rs1565256477
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0035579
Disease:
Rickets 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1565256477
rs1565256477
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0544755
Disease:
Genu varum 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1565256477
rs1565256477
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C1865832
Disease:
Spondyloepimetaphyseal Dysplasia, Missouri Type 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1565256477
rs1565256477
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0878659
Disease:
Disproportionate short stature 		G 0.700 CausalMutation CLINVAR
dbSNP: rs369083541
rs369083541
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432225
Disease:
Metaphyseal chondrodysplasia Spahr type 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121909497
rs121909497
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C1865832
Disease:
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.800 GeneticVariation UNIPROT MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). 16167086 2005
dbSNP: rs121909497
rs121909497
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432211
Disease:
Spondyloepimetaphyseal disorder 		0.010 GeneticVariation BEFREE Thus, the F56S mutation results in deficiency of MMP13, which leads to the human skeletal developmental anomaly of SEMD(MO). 16167086 2005
dbSNP: rs121909497
rs121909497
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0000768
Disease:
Congenital Abnormality 		0.010 GeneticVariation BEFREE Thus, the F56S mutation results in deficiency of MMP13, which leads to the human skeletal developmental anomaly of SEMD(MO). 16167086 2005
dbSNP: rs121909498
rs121909498
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C1865832
Disease:
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.700 GeneticVariation UNIPROT Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. 19615667 2009
dbSNP: rs121909499
rs121909499
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C1865832
Disease:
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.700 GeneticVariation UNIPROT Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. 19615667 2009
dbSNP: rs121909500
rs121909500
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C1865832
Disease:
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.700 GeneticVariation UNIPROT Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. 19615667 2009
dbSNP: rs11824953
rs11824953
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0202236
Disease:
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs11824953
rs11824953
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs11824953
rs11824953
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs11828157
rs11828157
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
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: rs11828157
rs11828157
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
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: rs11828157
rs11828157
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs11828157
rs11828157
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0202236
Disease:
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs11828157
rs11828157
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs2252070
rs2252070
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0333519
Disease:
Caries (morphologic abnormality) 		0.010 GeneticVariation BEFREE The purpose of this study was to determine if polymorphisms in MMP2 (rs243865), MMP9 (rs17576), MMP13 (rs2252070), and TIMP2 (rs7501477) were associated with caries. 22710194 2012