MMP13, matrix metallopeptidase 13, 4322

N. diseases: 328; N. variants: 14
Disease: Spondyloepimetaphyseal Dysplasia, Missouri Type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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