exostoses Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage. (Human Phenotype Ontology, HP_0100777)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100777
Similar Terms
Downloads & Tools

Genes

19 genes associated with the exostoses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALX4 ALX homeobox 4
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
LMX1B LIM homeobox transcription factor 1, beta
PHF21A PHD finger protein 21A
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAD21 RAD21 homolog (S. pombe)
SHOX short stature homeobox
TRPS1 trichorhinophalangeal syndrome I