delayed endochondral bone ossification Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description late onset of bone formation in bones that form from cartilage (Mammalian Phenotype Ontology, MP_0003419)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003419
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Genes

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

Symbol Name
AMER1 APC membrane recruitment protein 1
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
COL2A1 collagen, type II, alpha 1
CSF1R colony stimulating factor 1 receptor
CTGF connective tissue growth factor
FGF18 fibroblast growth factor 18
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FOXC1 forkhead box C1
GDF5 growth differentiation factor 5
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
HELLS helicase, lymphoid-specific
HOXD13 homeobox D13
IGF1 insulin-like growth factor 1 (somatomedin C)
IHH indian hedgehog
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
LASP1 LIM and SH3 protein 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NOV nephroblastoma overexpressed
NPR3 natriuretic peptide receptor 3
PDS5A PDS5 cohesin associated factor A
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
ROR2 receptor tyrosine kinase-like orphan receptor 2
RUNX2 runt-related transcription factor 2
SFRP2 secreted frizzled-related protein 2
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SP3 Sp3 transcription factor
SRC SRC proto-oncogene, non-receptor tyrosine kinase
SUCO SUN domain containing ossification factor
TBX15 T-box 15
THRA thyroid hormone receptor, alpha
TMEM119 transmembrane protein 119
TRPS1 trichorhinophalangeal syndrome I
TWSG1 twisted gastrulation BMP signaling modulator 1
ZEB1 zinc finger E-box binding homeobox 1