abnormal long bone hypertrophic chondrocyte zone Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly of the layer of the epiphyseal plate of a long bone where chondrocytes mature and enlarge (Mammalian Phenotype Ontology, MP_0000165)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000165
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Genes

86 gene mutations causing the abnormal long bone hypertrophic chondrocyte zone phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACP5 acid phosphatase 5, tartrate resistant
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CHSY1 chondroitin sulfate synthase 1
COL10A1 collagen, type X, alpha 1
COL2A1 collagen, type II, alpha 1
CREB3L2 cAMP responsive element binding protein 3-like 2
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
CTGF connective tissue growth factor
DMP1 dentin matrix acidic phosphoprotein 1
DUSP6 dual specificity phosphatase 6
DYM dymeclin
EGR2 early growth response 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FGF18 fibroblast growth factor 18
FGF21 fibroblast growth factor 21
FGF23 fibroblast growth factor 23
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSL2 FOS-like antigen 2
GALNS galactosamine (N-acetyl)-6-sulfatase
GGT1 gamma-glutamyltransferase 1
GHR growth hormone receptor
HAPLN1 hyaluronan and proteoglycan link protein 1
HDAC4 histone deacetylase 4
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IFT80 intraflagellar transport 80
IGF1 insulin-like growth factor 1 (somatomedin C)
IHH indian hedgehog
IRS1 insulin receptor substrate 1
ITGA10 integrin, alpha 10
KAT6B K(lysine) acetyltransferase 6B
LEP leptin
LGALS3 lectin, galactoside-binding, soluble, 3
LTBP3 latent transforming growth factor beta binding protein 3
MATN3 matrilin 3
MEX3C mex-3 RNA binding family member C
MGP matrix Gla protein
MIR140 microRNA 140
MITF microphthalmia-associated transcription factor
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP9 matrix metallopeptidase 9
MSX2 msh homeobox 2
NCDN neurochondrin
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NLRP3 NLR family, pyrin domain containing 3
NPPC natriuretic peptide C
NPR2 natriuretic peptide receptor 2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PHEX phosphate regulating endopeptidase homolog, X-linked
PITX1 paired-like homeodomain 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
PRKCD protein kinase C, delta
PRKG2 protein kinase, cGMP-dependent, type II
PRRX1 paired related homeobox 1
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
RGS10 regulator of G-protein signaling 10
ROR2 receptor tyrosine kinase-like orphan receptor 2
RUNX2 runt-related transcription factor 2
SIK3 SIK family kinase 3
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMAD3 SMAD family member 3
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SNAP25 synaptosomal-associated protein, 25kDa
SOX9 SRY (sex determining region Y)-box 9
SPRED2 sprouty-related, EVH1 domain containing 2
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TWSG1 twisted gastrulation BMP signaling modulator 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
XYLT1 xylosyltransferase I