abnormal epiphyseal ossification Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the formation and mineralization of an epiphysis. (Human Phenotype Ontology, HP_0010656)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010656
Similar Terms
Downloads & Tools

Genes

38 genes associated with the abnormal epiphyseal ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGPS alkylglycerone phosphate synthase
ARSE arylsulfatase E (chondrodysplasia punctata 1)
CLCN5 chloride channel, voltage-sensitive 5
COL2A1 collagen, type II, alpha 1
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DDR2 discoidin domain receptor tyrosine kinase 2
DHCR7 7-dehydrocholesterol reductase
DYM dymeclin
EBP emopamil binding protein (sterol isomerase)
GGCX gamma-glutamyl carboxylase
GUSB glucuronidase, beta
KIF22 kinesin family member 22
LBR lamin B receptor
MGP matrix Gla protein
NEU1 sialidase 1 (lysosomal sialidase)
NSDHL NAD(P) dependent steroid dehydrogenase-like
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTH1R parathyroid hormone 1 receptor
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
THRB thyroid hormone receptor, beta
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor