abnormal epiphyseal plate morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the cartilaginous center of ossification on the bones permitting growth of the bone in both directions during development (Mammalian Phenotype Ontology, MP_0006395)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006395
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Genes

139 gene mutations causing the abnormal epiphyseal plate morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACP5 acid phosphatase 5, tartrate resistant
ALPL alkaline phosphatase, liver/bone/kidney
ARSB arylsulfatase B
ATF2 activating transcription factor 2
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHAD chondroadherin
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CHSY1 chondroitin sulfate synthase 1
CLEC2D C-type lectin domain family 2, member D
CLEC3B C-type lectin domain family 3, member B
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
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
CRTAP cartilage associated protein
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
CTGF connective tissue growth factor
CTSK cathepsin K
CTSV cathepsin V
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DDR2 discoidin domain receptor tyrosine kinase 2
DMP1 dentin matrix acidic phosphoprotein 1
DUSP6 dual specificity phosphatase 6
DYM dymeclin
EBF1 early B-cell factor 1
EBF2 early B-cell factor 2
EGR2 early growth response 2
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
FAM20C family with sequence similarity 20, member C
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
FGFRL1 fibroblast growth factor receptor-like 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSL2 FOS-like antigen 2
G6PC glucose-6-phosphatase, catalytic subunit
GALNS galactosamine (N-acetyl)-6-sulfatase
GDF5 growth differentiation factor 5
GGT1 gamma-glutamyltransferase 1
GHR growth hormone receptor
GLG1 golgi glycoprotein 1
GLI2 GLI family zinc finger 2
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GSN gelsolin
GSX1 GS homeobox 1
GUSB glucuronidase, beta
HAPLN1 hyaluronan and proteoglycan link protein 1
HDAC4 histone deacetylase 4
HSPG2 heparan sulfate proteoglycan 2
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
IDUA iduronidase, alpha-L-
IFT80 intraflagellar transport 80
IGF1 insulin-like growth factor 1 (somatomedin C)
IHH indian hedgehog
IMPAD1 inositol monophosphatase domain containing 1
IRS1 insulin receptor substrate 1
ITGA10 integrin, alpha 10
KAT6B K(lysine) acetyltransferase 6B
KIF3A kinesin family member 3A
LASP1 LIM and SH3 protein 1
LBR lamin B receptor
LEP leptin
LGALS3 lectin, galactoside-binding, soluble, 3
LTBP3 latent transforming growth factor beta binding protein 3
MATN1 matrilin 1, cartilage matrix protein
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
NOS3 nitric oxide synthase 3 (endothelial cell)
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
PITX1 paired-like homeodomain 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
POSTN periostin, osteoblast specific factor
PRG4 proteoglycan 4
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
PTPN2 protein tyrosine phosphatase, non-receptor type 2
RGS10 regulator of G-protein signaling 10
ROR2 receptor tyrosine kinase-like orphan receptor 2
RUNX2 runt-related transcription factor 2
SFRP2 secreted frizzled-related protein 2
SIK3 SIK family kinase 3
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
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
SRC SRC proto-oncogene, non-receptor tyrosine kinase
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TM7SF2 transmembrane 7 superfamily member 2
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNNT3 troponin T type 3 (skeletal, fast)
TNS3 tensin 3
TWSG1 twisted gastrulation BMP signaling modulator 1
VANGL2 VANGL planar cell polarity protein 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
XYLT1 xylosyltransferase I