Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 Biomarker GENOMICS_ENGLAND MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type. 24648384

2014
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 Biomarker GENOMICS_ENGLAND Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. 19615667

2009
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 GeneticVariation UNIPROT Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. 19615667

2009
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 GeneticVariation BEFREE MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). 16167086

2005
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 GeneticVariation UNIPROT MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). 16167086

2005
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 GermlineCausalMutation ORPHANET

Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 Biomarker GENOMICS_ENGLAND

Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 Biomarker CTD_human

Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 CausalMutation CLINVAR