abnormal enchondral ossification Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. (Human Phenotype Ontology, HP_0003336)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003336
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
AGPS alkylglycerone phosphate synthase
ALPL alkaline phosphatase, liver/bone/kidney
ARSE arylsulfatase E (chondrodysplasia punctata 1)
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
BMPER BMP binding endothelial regulator
CANT1 calcium activated nucleotidase 1
CD96 CD96 molecule
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
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)
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
FLNB filamin B, beta
GGCX gamma-glutamyl carboxylase
GPC3 glypican 3
GSC goosecoid homeobox
GUSB glucuronidase, beta
HOXA13 homeobox A13
HSPG2 heparan sulfate proteoglycan 2
IHH indian hedgehog
INPPL1 inositol polyphosphate phosphatase-like 1
KIF22 kinesin family member 22
LBR lamin B receptor
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
MATN3 matrilin 3
MGP matrix Gla protein
NEU1 sialidase 1 (lysosomal sialidase)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NKX3-2 NK3 homeobox 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
ORC1 origin recognition complex, subunit 1
ORC6 origin recognition complex, subunit 6
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
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTCH1 patched 1
PTCH2 patched 2
PTH1R parathyroid hormone 1 receptor
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RUNX2 runt-related transcription factor 2
SBDS Shwachman-Bodian-Diamond syndrome
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SOX9 SRY (sex determining region Y)-box 9
SUFU suppressor of fused homolog (Drosophila)
THRB thyroid hormone receptor, beta
TRIP11 thyroid hormone receptor interactor 11
TRPV4 transient receptor potential cation channel, subfamily V, member 4
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WNT3 wingless-type MMTV integration site family, member 3
XYLT1 xylosyltransferase I