MMP13, matrix metallopeptidase 13, 4322

N. diseases: 328; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		0.710 GeneticVariation disease UNIPROT Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia. 24781753 2015
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		0.710 GermlineCausalMutation disease ORPHANET The MDST phenotype is associated with recessive MMP13 mutations, confirming the importance of this metalloproteinase in the metaphyseal growth plate. 24648384 2014
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		0.710 Biomarker disease GENOMICS_ENGLAND The MDST phenotype is associated with recessive MMP13 mutations, confirming the importance of this metalloproteinase in the metaphyseal growth plate. 24648384 2014
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		0.710 GeneticVariation disease UNIPROT The MDST phenotype is associated with recessive MMP13 mutations, confirming the importance of this metalloproteinase in the metaphyseal growth plate. 24648384 2014
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		0.710 GeneticVariation disease BEFREE The MDST phenotype is associated with recessive MMP13 mutations, confirming the importance of this metalloproteinase in the metaphyseal growth plate. 24648384 2014
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 Biomarker disease GENOMICS_ENGLAND MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type. 24648384 2014
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. 19615667 2009
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 GeneticVariation disease UNIPROT Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. 19615667 2009
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 GeneticVariation disease BEFREE MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). 16167086 2005
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 GeneticVariation disease UNIPROT MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO). 16167086 2005
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		0.710 CausalMutation disease CLINVAR
CUI: C0432225
Disease: Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia Spahr type 		0.710 Biomarker disease CTD_human
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 GermlineCausalMutation disease ORPHANET
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 Biomarker disease CTD_human
CUI: C1865832
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type
Spondyloepimetaphyseal Dysplasia, Missouri Type 		0.710 CausalMutation disease CLINVAR
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.500 Therapeutic disease CTD_human Scar-associated macrophages are a major source of hepatic matrix metalloproteinase-13 and facilitate the resolution of murine hepatic fibrosis. 17404313 2007
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.500 Therapeutic disease RGD Enhanced interstitial collagenase (matrix metalloproteinase-13) production of Kupffer cell by gadolinium chloride prevents pig serum-induced rat liver fibrosis. 10623612 2000
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.400 CausalMutation phenotype CLINVAR
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.400 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.400 Biomarker phenotype HPO
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.340 AlteredExpression disease 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
CUI: C0432226
Disease: Metaphyseal anadysplasia
Metaphyseal anadysplasia 		0.340 Biomarker disease 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
CUI: C0432226
Disease: Metaphyseal anadysplasia
Metaphyseal anadysplasia 		0.340 GeneticVariation disease 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
CUI: C0432226
Disease: Metaphyseal anadysplasia
Metaphyseal anadysplasia 		0.340 GermlineCausalMutation disease 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