Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
0.120 GeneticVariation disease BEFREE Thus, the F56S mutation results in deficiency of MMP13, which leads to the human skeletal developmental anomaly of SEMD(MO). 16167086 2005
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
0.120 GeneticVariation disease BEFREE Moreover, a mutation in the human MMP13 gene causes the Missouri variant of spondyloepimetaphyseal dysplasia. 15539485 2004
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
0.120 Biomarker disease HPO