abnormal chondrocyte morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of a polymorphic cell that forms cartilage (Mammalian Phenotype Ontology, MP_0000166)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000166
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69 gene mutations causing the abnormal chondrocyte morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
ACP5 acid phosphatase 5, tartrate resistant
ANKH ANKH inorganic pyrophosphate transport regulator
ATF2 activating transcription factor 2
BMPR1B bone morphogenetic protein receptor, type IB
CBFB core-binding factor, beta subunit
CHSY1 chondroitin sulfate synthase 1
CHUK conserved helix-loop-helix ubiquitous kinase
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
COL9A1 collagen, type IX, alpha 1
COMP cartilage oligomeric matrix protein
CREB3L2 cAMP responsive element binding protein 3-like 2
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DERL2 derlin 2
DISP1 dispatched homolog 1 (Drosophila)
DYM dymeclin
EGFR epidermal growth factor receptor
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EVC Ellis van Creveld protein
FGF23 fibroblast growth factor 23
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNB filamin B, beta
FOSL2 FOS-like antigen 2
GDF5 growth differentiation factor 5
GHR growth hormone receptor
GLI2 GLI family zinc finger 2
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
HSPG2 heparan sulfate proteoglycan 2
HYAL1 hyaluronoglucosaminidase 1
IDUA iduronidase, alpha-L-
IGF1 insulin-like growth factor 1 (somatomedin C)
IHH indian hedgehog
IRS1 insulin receptor substrate 1
LRP4 low density lipoprotein receptor-related protein 4
MATN3 matrilin 3
MIA melanoma inhibitory activity
MIA3 melanoma inhibitory activity family, member 3
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MSX2 msh homeobox 2
NCDN neurochondrin
NLRP3 NLR family, pyrin domain containing 3
NOV nephroblastoma overexpressed
NPR2 natriuretic peptide receptor 2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PBX1 pre-B-cell leukemia homeobox 1
PHEX phosphate regulating endopeptidase homolog, X-linked
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
PRG4 proteoglycan 4
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
ROR2 receptor tyrosine kinase-like orphan receptor 2
RUNX2 runt-related transcription factor 2
SHH sonic hedgehog
SIK3 SIK family kinase 3
SLC39A14 solute carrier family 39 (zinc transporter), member 14
SMAD3 SMAD family member 3
SPG20 spastic paraplegia 20 (Troyer syndrome)
TBX15 T-box 15
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNS3 tensin 3
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
XYLT1 xylosyltransferase I