abnormal long bone epiphyseal plate proliferative zone Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly of the germinal layer of the epiphyseal plate where cells are actively dividing as well as producing extracellular matrix (Mammalian Phenotype Ontology, MP_0003662)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003662
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Genes

47 gene mutations causing the abnormal long bone epiphyseal plate proliferative zone phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACP5 acid phosphatase 5, tartrate resistant
CAV1 caveolin 1, caveolae protein, 22kDa
CHAD chondroadherin
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CREB3L2 cAMP responsive element binding protein 3-like 2
CSF1R colony stimulating factor 1 receptor
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
FGF18 fibroblast growth factor 18
FGFR3 fibroblast growth factor receptor 3
FOS FBJ murine osteosarcoma viral oncogene homolog
GALNS galactosamine (N-acetyl)-6-sulfatase
GGT1 gamma-glutamyltransferase 1
GHR growth hormone receptor
HSPG2 heparan sulfate proteoglycan 2
IGF1 insulin-like growth factor 1 (somatomedin C)
IHH indian hedgehog
IRS1 insulin receptor substrate 1
LEP leptin
LTBP3 latent transforming growth factor beta binding protein 3
MATN3 matrilin 3
MGP matrix Gla protein
MMP14 matrix metallopeptidase 14 (membrane-inserted)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NPPC natriuretic peptide C
NPR2 natriuretic peptide receptor 2
NPR3 natriuretic peptide receptor 3
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PHEX phosphate regulating endopeptidase homolog, X-linked
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
ROR2 receptor tyrosine kinase-like orphan receptor 2
RUNX2 runt-related transcription factor 2
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TWSG1 twisted gastrulation BMP signaling modulator 1