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: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		0.710 GeneticVariation UNIPROT Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia. 24781753

2015
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		0.710 GermlineCausalMutation ORPHANET The MDST phenotype is associated with recessive MMP13 mutations, confirming the importance of this metalloproteinase in the metaphyseal growth plate. 24648384

2014
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		0.710 Biomarker GENOMICS_ENGLAND The MDST phenotype is associated with recessive MMP13 mutations, confirming the importance of this metalloproteinase in the metaphyseal growth plate. 24648384

2014
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		0.710 GeneticVariation UNIPROT The MDST phenotype is associated with recessive MMP13 mutations, confirming the importance of this metalloproteinase in the metaphyseal growth plate. 24648384

2014
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		0.710 GeneticVariation BEFREE The MDST phenotype is associated with recessive MMP13 mutations, confirming the importance of this metalloproteinase in the metaphyseal growth plate. 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 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: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		0.710 CausalMutation CLINVAR

Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr 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 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

Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.500 Therapeutic CTD_human Scar-associated macrophages are a major source of hepatic matrix metalloproteinase-13 and facilitate the resolution of murine hepatic fibrosis. 17404313

2007
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.500 Therapeutic RGD Enhanced interstitial collagenase (matrix metalloproteinase-13) production of Kupffer cell by gadolinium chloride prevents pig serum-induced rat liver fibrosis. 10623612

2000
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.400 CausalMutation CLINVAR

Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.400 Biomarker HPO

Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.340 AlteredExpression BEFREE Higher expressions of TLR-9 and MMP-13 were found in PCa and high-grade prostatic intraepithelial neoplasia compared to benign prostatic hyperplasia tissues. 31090157

2019
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432226
Disease: Metaphyseal anadysplasia
Metaphyseal anadysplasia 		0.340 Biomarker BEFREE Our findings not only expand genotype and phenotype spectrums of MMP13-related disorders but also offer further information for precise diagnosis and classification of metaphyseal anadysplasia disorders. 30439533

2019
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432226
Disease: Metaphyseal anadysplasia
Metaphyseal anadysplasia 		0.340 GeneticVariation BEFREE This report extends the MANDP phenotype by illustrating that AR nonsense mutations in MMP13 can lead to short stature that persists beyond childhood. 24781753

2015
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
CUI: C0432226
Disease: Metaphyseal anadysplasia
Metaphyseal anadysplasia 		0.340 GermlineCausalMutation ORPHANET This report extends the MANDP phenotype by illustrating that AR nonsense mutations in MMP13 can lead to short stature that persists beyond childhood. 24781753

2015