spondyloepimetaphyseal dysplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. (Human Disease Ontology, DOID_0080027)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002651
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Genes

5 genes associated with the spondyloepimetaphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
DDR2 discoidin domain receptor tyrosine kinase 2
KIF22 kinesin family member 22
MATN3 matrilin 3
MMP13 matrix metallopeptidase 13