Spondyloepimetaphyseal Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C1849011
Similar Terms
Downloads & Tools

Genes

5 genes associated with the disease Spondyloepimetaphyseal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
DDR2 discoidin domain receptor tyrosine kinase 2
RSPRY1 ring finger and SPRY domain containing 1
SIK3 SIK family kinase 3
UFSP2 UFM1-specific peptidase 2