abnormal cartilage development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the formation of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life (Mammalian Phenotype Ontology, MP_0000164)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000164
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Genes

128 gene mutations causing the abnormal cartilage development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
ACP5 acid phosphatase 5, tartrate resistant
BMP5 bone morphogenetic protein 5
BMPER BMP binding endothelial regulator
BMPR1B bone morphogenetic protein receptor, type IB
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CHAD chondroadherin
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CHSY1 chondroitin sulfate synthase 1
CLEC3B C-type lectin domain family 3, member B
CNN1 calponin 1, basic, smooth muscle
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL12A1 collagen, type XII, 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
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
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
FGF18 fibroblast growth factor 18
FGF21 fibroblast growth factor 21
FGF23 fibroblast growth factor 23
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSL2 FOS-like antigen 2
FOXC1 forkhead box C1
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
HAPLN1 hyaluronan and proteoglycan link protein 1
HDAC4 histone deacetylase 4
HES7 hes family bHLH transcription factor 7
HHAT hedgehog acyltransferase
HOXA2 homeobox A2
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IFT80 intraflagellar transport 80
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
IHH indian hedgehog
IMPAD1 inositol monophosphatase domain containing 1
IRS1 insulin receptor substrate 1
ITGA10 integrin, alpha 10
KAT6B K(lysine) acetyltransferase 6B
KIAA1217 KIAA1217
LEP leptin
LGALS3 lectin, galactoside-binding, soluble, 3
LMX1B LIM homeobox transcription factor 1, beta
LTBP3 latent transforming growth factor beta binding protein 3
MATN3 matrilin 3
MED31 mediator complex subunit 31
MEX3C mex-3 RNA binding family member C
MGP matrix Gla protein
MIA3 melanoma inhibitory activity family, member 3
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
NABP2 nucleic acid binding protein 2
NCDN neurochondrin
NELL1 NEL-like 1 (chicken)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NKX3-2 NK3 homeobox 2
NLRP3 NLR family, pyrin domain containing 3
NOV nephroblastoma overexpressed
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
PAX1 paired box 1
PC pyruvate carboxylase
PEX7 peroxisomal biogenesis factor 7
PHEX phosphate regulating endopeptidase homolog, X-linked
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
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
SHH sonic hedgehog
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
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
TACC3 transforming, acidic coiled-coil containing protein 3
TBX6 T-box 6
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TGFBR1 transforming growth factor, beta receptor 1
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