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: rs140059558
rs140059558
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432225
Disease:
Metaphyseal chondrodysplasia Spahr type 		0.800 GeneticVariation UNIPROT Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia. 24781753 2015
dbSNP: rs140059558
rs140059558
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432225
Disease:
Metaphyseal chondrodysplasia Spahr type 		0.800 GeneticVariation UNIPROT MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type. 24648384 2014
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: 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: 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: 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: 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: rs2252070
rs2252070
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0162871
Disease:
Aortic Aneurysm, Abdominal 		0.020 GeneticVariation BEFREE We also assessed the potential association between 2 functional single nucleotide polymorphisms in the genes MMP9 (-1561C/T; rs3918242) and MMP13 (-77A/G; rs2252070), and the presence of large AAAs. 29739236 2019