abnormal bone ossification Gene Set

Dataset MPO Gene-Phenotype 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://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008271
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Genes

293 gene mutations causing the abnormal bone ossification phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
ACP2 acid phosphatase 2, lysosomal
ACP5 acid phosphatase 5, tartrate resistant
ACVR1 activin A receptor, type I
ADIPOQ adiponectin, C1Q and collagen domain containing
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ALPL alkaline phosphatase, liver/bone/kidney
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANO6 anoctamin 6
ANXA1 annexin A1
APAF1 apoptotic peptidase activating factor 1
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATF4 activating transcription factor 4
AXIN2 axin 2
BGN biglycan
BMP5 bone morphogenetic protein 5
BMP6 bone morphogenetic protein 6
BMP7 bone morphogenetic protein 7
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BTG3 BTG family, member 3
C1ORF112 chromosome 1 open reading frame 112
CALCB calcitonin-related polypeptide beta
CALCR calcitonin receptor
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CBFB core-binding factor, beta subunit
CD68 CD68 molecule
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CENPJ centromere protein J
CHUK conserved helix-loop-helix ubiquitous kinase
CISD2 CDGSH iron sulfur domain 2
CLCN7 chloride channel, voltage-sensitive 7
CNN1 calponin 1, basic, smooth muscle
CNOT3 CCR4-NOT transcription complex, subunit 3
COL11A1 collagen, type XI, alpha 1
COL12A1 collagen, type XII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
CREB3L1 cAMP responsive element binding protein 3-like 1
CREBBP CREB binding protein
CRH corticotropin releasing hormone
CRTAP cartilage associated protein
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CST5 cystatin D
CTGF connective tissue growth factor
CTHRC1 collagen triple helix repeat containing 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DCHS1 dachsous cadherin-related 1
DDR1 discoidin domain receptor tyrosine kinase 1
DHRS3 dehydrogenase/reductase (SDR family) member 3
DKK2 dickkopf WNT signaling pathway inhibitor 2
DLL3 delta-like 3 (Drosophila)
DLX5 distal-less homeobox 5
DMP1 dentin matrix acidic phosphoprotein 1
DNM3OS DNM3 opposite strand/antisense RNA
DPPA4 developmental pluripotency associated 4
DUSP6 dual specificity phosphatase 6
EBF1 early B-cell factor 1
EDNRB endothelin receptor type B
EGR2 early growth response 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EN1 engrailed homeobox 1
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ERF Ets2 repressor factor
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
EVC Ellis van Creveld protein
EXT2 exostosin glycosyltransferase 2
FAM117B family with sequence similarity 117, member B
FAT4 FAT atypical cadherin 4
FGF18 fibroblast growth factor 18
FGF23 fibroblast growth factor 23
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGFRL1 fibroblast growth factor receptor-like 1
FH fumarate hydratase
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNB filamin B, beta
FNDC3B fibronectin type III domain containing 3B
FOSL2 FOS-like antigen 2
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FREM1 FRAS1 related extracellular matrix 1
FSTL1 follistatin-like 1
FUZ fuzzy planar cell polarity protein
FZD9 frizzled class receptor 9
GATA1 GATA binding protein 1 (globin transcription factor 1)
GC group-specific component (vitamin D binding protein)
GCM2 glial cells missing homolog 2 (Drosophila)
GDF5 growth differentiation factor 5
GFRA4 GDNF family receptor alpha 4
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GLCE glucuronic acid epimerase
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GPC3 glypican 3
GPRC6A G protein-coupled receptor, class C, group 6, member A
GSK3B glycogen synthase kinase 3 beta
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HELLS helicase, lymphoid-specific
HHAT hedgehog acyltransferase
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3
HOXA4 homeobox A4
HOXC10 homeobox C10
HOXD13 homeobox D13
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HSPG2 heparan sulfate proteoglycan 2
HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled
IBSP integrin-binding sialoprotein
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGF2R insulin-like growth factor 2 receptor
IHH indian hedgehog
IL10 interleukin 10
IL6ST interleukin 6 signal transducer
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IRF6 interferon regulatory factor 6
IRS1 insulin receptor substrate 1
ISG15 ISG15 ubiquitin-like modifier
ITGB1BP1 integrin beta 1 binding protein 1
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
KAT6B K(lysine) acetyltransferase 6B
KCNJ16 potassium channel, inwardly rectifying subfamily J, member 16
KIAA1715 KIAA1715
KL klotho
KLF10 Kruppel-like factor 10
LASP1 LIM and SH3 protein 1
LECT1 leukocyte cell derived chemotaxin 1
LMNA lamin A/C
LMNB1 lamin B1
LRP5 low density lipoprotein receptor-related protein 5
LRP6 low density lipoprotein receptor-related protein 6
LRRK1 leucine-rich repeat kinase 1
LTBP3 latent transforming growth factor beta binding protein 3
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MECOM MDS1 and EVI1 complex locus
MED31 mediator complex subunit 31
MEF2C myocyte enhancer factor 2C
MEGF8 multiple EGF-like-domains 8
MEPE matrix extracellular phosphoglycoprotein
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGP matrix Gla protein
MIA3 melanoma inhibitory activity family, member 3
MKS1 Meckel syndrome, type 1
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP9 matrix metallopeptidase 9
MSX2 msh homeobox 2
MYF5 myogenic factor 5
MYF6 myogenic factor 6 (herculin)
MYOG myogenin (myogenic factor 4)
NABP2 nucleic acid binding protein 2
NACA nascent polypeptide-associated complex alpha subunit
NBR1 neighbor of BRCA1 gene 1
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NELL1 NEL-like 1 (chicken)
NFE2 nuclear factor, erythroid 2
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NKX3-2 NK3 homeobox 2
NOG noggin
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOV nephroblastoma overexpressed
NPR2 natriuretic peptide receptor 2
NPR3 natriuretic peptide receptor 3
NPY2R neuropeptide Y receptor Y2
NSDHL NAD(P) dependent steroid dehydrogenase-like
OSTM1 osteopetrosis associated transmembrane protein 1
PAPPA pregnancy-associated plasma protein A, pappalysin 1
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PBX3 pre-B-cell leukemia homeobox 3
PCGF2 polycomb group ring finger 2
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PER2 period circadian clock 2
PEX2 peroxisomal biogenesis factor 2
PEX7 peroxisomal biogenesis factor 7
PGR progesterone receptor
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF14 PHD finger protein 14
PHOSPHO1 phosphatase, orphan 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
PLAGL1 pleiomorphic adenoma gene-like 1
PLK2 polo-like kinase 2
POSTN periostin, osteoblast specific factor
PPARG peroxisome proliferator-activated receptor gamma
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCD protein kinase C, delta
PRKG2 protein kinase, cGMP-dependent, type II
PRLR prolactin receptor
PRRX1 paired related homeobox 1
PSEN1 presenilin 1
PTCH1 patched 1
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PYY peptide YY
RASSF2 Ras association (RalGDS/AF-6) domain family member 2
RGN regucalcin
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RNF169 ring finger protein 169
RNF2 ring finger protein 2
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL29 ribosomal protein L29
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RPS7 ribosomal protein S7
RSPO2 R-spondin 2
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SATB2 SATB homeobox 2
SBNO2 strawberry notch homolog 2 (Drosophila)
SFRP2 secreted frizzled-related protein 2
SH3BP2 SH3-domain binding protein 2
SIGLEC15 sialic acid binding Ig-like lectin 15
SIK3 SIK family kinase 3
SIN3B SIN3 transcription regulator family member B
SIX1 SIX homeobox 1
SLC20A1 solute carrier family 20 (phosphate transporter), member 1
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SOST sclerostin
SOX11 SRY (sex determining region Y)-box 11
SOX5 SRY (sex determining region Y)-box 5
SOX9 SRY (sex determining region Y)-box 9
SP3 Sp3 transcription factor
SP7 Sp7 transcription factor
SPP1 secreted phosphoprotein 1
SQSTM1 sequestosome 1
SRC SRC proto-oncogene, non-receptor tyrosine kinase
STAG1 stromal antigen 1
SUCO SUN domain containing ossification factor
T T, brachyury homolog (mouse)
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TACC3 transforming, acidic coiled-coil containing protein 3
TBX15 T-box 15
TBX22 T-box 22
TCF15 transcription factor 15 (basic helix-loop-helix)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TGFB1 transforming growth factor, beta 1
TGFBR1 transforming growth factor, beta receptor 1
THBS3 thrombospondin 3
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TMEM107 transmembrane protein 107
TMEM119 transmembrane protein 119
TMEM64 transmembrane protein 64
TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial)
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNNT3 troponin T type 3 (skeletal, fast)
TOB1 transducer of ERBB2, 1
TRIP11 thyroid hormone receptor interactor 11
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TRPS1 trichorhinophalangeal syndrome I
TTLL4 tubulin tyrosine ligase-like family member 4
TWIST1 twist family bHLH transcription factor 1
TWSG1 twisted gastrulation BMP signaling modulator 1
TYROBP TYRO protein tyrosine kinase binding protein
USP1 ubiquitin specific peptidase 1
UTF1 undifferentiated embryonic cell transcription factor 1
VANGL2 VANGL planar cell polarity protein 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDR19 WD repeat domain 19
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT3A wingless-type MMTV integration site family, member 3A
WNT5A wingless-type MMTV integration site family, member 5A
WWTR1 WW domain containing transcription regulator 1
XYLB xylulokinase homolog (H. influenzae)
XYLT1 xylosyltransferase I
ZEB1 zinc finger E-box binding homeobox 1
ZNF202 zinc finger protein 202