delayed bone ossification Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description late onset of the formation of bone (Mammalian Phenotype Ontology, MP_0000060)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000060
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Genes

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

Symbol Name
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
AMER1 APC membrane recruitment protein 1
BMP7 bone morphogenetic protein 7
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CBFB core-binding factor, beta subunit
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHUK conserved helix-loop-helix ubiquitous kinase
COL2A1 collagen, type II, alpha 1
CREBBP CREB binding protein
CSF1R colony stimulating factor 1 receptor
CTGF connective tissue growth factor
DHRS3 dehydrogenase/reductase (SDR family) member 3
DLX5 distal-less homeobox 5
DMP1 dentin matrix acidic phosphoprotein 1
DUSP6 dual specificity phosphatase 6
EN1 engrailed homeobox 1
ERF Ets2 repressor factor
EVC Ellis van Creveld protein
FGF18 fibroblast growth factor 18
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGFRL1 fibroblast growth factor receptor-like 1
FH fumarate hydratase
FOSL2 FOS-like antigen 2
FOXC1 forkhead box C1
FUZ fuzzy planar cell polarity protein
GDF5 growth differentiation factor 5
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GLI2 GLI family zinc finger 2
GSK3B glycogen synthase kinase 3 beta
HELLS helicase, lymphoid-specific
HOXD13 homeobox D13
HSPG2 heparan sulfate proteoglycan 2
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IHH indian hedgehog
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IRF6 interferon regulatory factor 6
ITGB1BP1 integrin beta 1 binding protein 1
KIAA1715 KIAA1715
LASP1 LIM and SH3 protein 1
LMNB1 lamin B1
LRP5 low density lipoprotein receptor-related protein 5
LRP6 low density lipoprotein receptor-related protein 6
MEGF8 multiple EGF-like-domains 8
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MIA3 melanoma inhibitory activity family, member 3
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP9 matrix metallopeptidase 9
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NOV nephroblastoma overexpressed
NPR3 natriuretic peptide receptor 3
PAPPA pregnancy-associated plasma protein A, pappalysin 1
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PEX2 peroxisomal biogenesis factor 2
PEX7 peroxisomal biogenesis factor 7
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
PLK2 polo-like kinase 2
PRDM5 PR domain containing 5
PRLR prolactin receptor
PRRX1 paired related homeobox 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL29 ribosomal protein L29
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SFRP2 secreted frizzled-related protein 2
SIK3 SIK family kinase 3
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)
SP3 Sp3 transcription factor
SRC SRC proto-oncogene, non-receptor tyrosine kinase
STAG1 stromal antigen 1
SUCO SUN domain containing ossification factor
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TBX15 T-box 15
THRA thyroid hormone receptor, alpha
TMEM107 transmembrane protein 107
TMEM119 transmembrane protein 119
TRPS1 trichorhinophalangeal syndrome I
TWSG1 twisted gastrulation BMP signaling modulator 1
USP1 ubiquitin specific peptidase 1
UTF1 undifferentiated embryonic cell transcription factor 1
WNT5A wingless-type MMTV integration site family, member 5A
ZEB1 zinc finger E-box binding homeobox 1