abnormal bone ossification Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. (Human Phenotype Ontology, HP_0011849)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011849
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Genes

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

Symbol Name
ACVR1 activin A receptor, type I
AGPS alkylglycerone phosphate synthase
ALPL alkaline phosphatase, liver/bone/kidney
ALX4 ALX homeobox 4
ANTXR1 anthrax toxin receptor 1
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
COL10A1 collagen, type X, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
CRTAP cartilage associated 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
EXT2 exostosin glycosyltransferase 2
FAM111A family with sequence similarity 111, member A
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
HDAC6 histone deacetylase 6
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
LMNA lamin A/C
MATN3 matrilin 3
MGP matrix Gla protein
MPL MPL proto-oncogene, thrombopoietin receptor
NEU1 sialidase 1 (lysosomal sialidase)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NKX3-2 NK3 homeobox 2
NOTCH2 notch 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
NT5E 5'-nucleotidase, ecto (CD73)
ORC1 origin recognition complex, subunit 1
ORC6 origin recognition complex, subunit 6
P3H1 prolyl 3-hydroxylase 1
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
PHF21A PHD finger protein 21A
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
SEC23A Sec23 homolog A (S. cerevisiae)
SETBP1 SET binding protein 1
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
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)
TBCE tubulin folding cofactor E
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
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I
ZMPSTE24 zinc metallopeptidase STE24