abnormal endochondral bone ossification Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone (Mammalian Phenotype Ontology, MP_0008272)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008272
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Genes

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

Symbol Name
ACP5 acid phosphatase 5, tartrate resistant
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
AMER1 APC membrane recruitment protein 1
BMP6 bone morphogenetic protein 6
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHUK conserved helix-loop-helix ubiquitous kinase
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
CSF1R colony stimulating factor 1 receptor
CTGF connective tissue growth factor
DCHS1 dachsous cadherin-related 1
DPPA4 developmental pluripotency associated 4
EN1 engrailed homeobox 1
FAT4 FAT atypical cadherin 4
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
FOXC1 forkhead box C1
GDF5 growth differentiation factor 5
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GSK3B glycogen synthase kinase 3 beta
HDAC4 histone deacetylase 4
HELLS helicase, lymphoid-specific
HOXA4 homeobox A4
HOXD13 homeobox D13
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IHH indian hedgehog
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
LASP1 LIM and SH3 protein 1
MEF2C myocyte enhancer factor 2C
MKS1 Meckel syndrome, type 1
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MYF5 myogenic factor 5
MYF6 myogenic factor 6 (herculin)
MYOG myogenin (myogenic factor 4)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NOV nephroblastoma overexpressed
NPR2 natriuretic peptide receptor 2
NPR3 natriuretic peptide receptor 3
NSDHL NAD(P) dependent steroid dehydrogenase-like
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PCGF2 polycomb group ring finger 2
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PHF14 PHD finger protein 14
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTHLH parathyroid hormone-like hormone
RNF2 ring finger protein 2
ROR2 receptor tyrosine kinase-like orphan receptor 2
RUNX2 runt-related transcription factor 2
SFRP2 secreted frizzled-related protein 2
SIX1 SIX homeobox 1
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SOX11 SRY (sex determining region Y)-box 11
SOX5 SRY (sex determining region Y)-box 5
SP3 Sp3 transcription factor
SP7 Sp7 transcription factor
SRC SRC proto-oncogene, non-receptor tyrosine kinase
SUCO SUN domain containing ossification factor
TBX15 T-box 15
TCF15 transcription factor 15 (basic helix-loop-helix)
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TMEM119 transmembrane protein 119
TRPS1 trichorhinophalangeal syndrome I
TWIST1 twist family bHLH transcription factor 1
TWSG1 twisted gastrulation BMP signaling modulator 1
VANGL2 VANGL planar cell polarity protein 2
WDR19 WD repeat domain 19
WHSC1 Wolf-Hirschhorn syndrome candidate 1
XYLT1 xylosyltransferase I
ZEB1 zinc finger E-box binding homeobox 1