Spondyloepimetaphyseal Dysplasia, Missouri Type Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. (Human Disease Ontology, DOID_0080030)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C566574
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Genes

1 genes/proteins associated with the disease Spondyloepimetaphyseal Dysplasia, Missouri Type from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
MMP13 matrix metallopeptidase 13 2.88009