abnormal joint morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. (Human Phenotype Ontology, HP_0001367)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002932
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Genes

188 gene mutations causing the abnormal joint morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVR1 activin A receptor, type I
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANKRD13A ankyrin repeat domain 13A
ANO6 anoctamin 6
ANTXR1 anthrax toxin receptor 1
ANXA1 annexin A1
ARID4A AT rich interactive domain 4A (RBP1-like)
ARL6 ADP-ribosylation factor-like 6
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARPC2 actin related protein 2/3 complex, subunit 2, 34kDa
ASXL1 additional sex combs like transcriptional regulator 1
ATR ATR serine/threonine kinase
AXIN1 axin 1
AXIN2 axin 2
BAG3 BCL2-associated athanogene 3
BMP4 bone morphogenetic protein 4
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
BMPR1B bone morphogenetic protein receptor, type IB
C1RL complement component 1, r subcomponent-like
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CASP3 caspase 3, apoptosis-related cysteine peptidase
CDX1 caudal type homeobox 1
CENPJ centromere protein J
CHKB choline kinase beta
CHUK conserved helix-loop-helix ubiquitous kinase
CLU clusterin
COL11A1 collagen, type XI, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
CREB3L1 cAMP responsive element binding protein 3-like 1
CREBBP CREB binding protein
CSRP2BP CSRP2 binding protein
CTSK cathepsin K
DEAF1 DEAF1 transcription factor
DHRS3 dehydrogenase/reductase (SDR family) member 3
DLL3 delta-like 3 (Drosophila)
DLX5 distal-less homeobox 5
DMRT2 doublesex and mab-3 related transcription factor 2
DNASE1L2 deoxyribonuclease I-like 2
DNM3OS DNM3 opposite strand/antisense RNA
DSCC1 DNA replication and sister chromatid cohesion 1
EHD1 EH-domain containing 1
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ERRFI1 ERBB receptor feedback inhibitor 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FAS Fas cell surface death receptor
FBN2 fibrillin 2
FGA fibrinogen alpha chain
FGF18 fibroblast growth factor 18
FGF3 fibroblast growth factor 3
FGF9 fibroblast growth factor 9
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKBP8 FK506 binding protein 8, 38kDa
FLNB filamin B, beta
FREM1 FRAS1 related extracellular matrix 1
G6PC glucose-6-phosphatase, catalytic subunit
GDF5 growth differentiation factor 5
GDF6 growth differentiation factor 6
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GSC goosecoid homeobox
GTF2IRD1 GTF2I repeat domain containing 1
HES7 hes family bHLH transcription factor 7
HOXB3 homeobox B3
HOXD1 homeobox D1
HOXD10 homeobox D10
HOXD12 homeobox D12
HOXD13 homeobox D13
HOXD3 homeobox D3
HOXD9 homeobox D9
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HSPG2 heparan sulfate proteoglycan 2
HYAL2 hyaluronoglucosaminidase 2
HYDIN HYDIN, axonemal central pair apparatus protein
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT88 intraflagellar transport 88
IHH indian hedgehog
IL6ST interleukin 6 signal transducer
IMPAD1 inositol monophosphatase domain containing 1
ITGB1BP1 integrin beta 1 binding protein 1
KAT6B K(lysine) acetyltransferase 6B
KCTD10 potassium channel tetramerization domain containing 10
KDM4B lysine (K)-specific demethylase 4B
KMT2A lysine (K)-specific methyltransferase 2A
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LMNA lamin A/C
LMNB1 lamin B1
LMO4 LIM domain only 4
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LRP6 low density lipoprotein receptor-related protein 6
LTBP3 latent transforming growth factor beta binding protein 3
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
MBTD1 mbt domain containing 1
MEOX1 mesenchyme homeobox 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MN1 meningioma (disrupted in balanced translocation) 1
MSGN1 mesogenin 1
MSX1 msh homeobox 1
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYF5 myogenic factor 5
MYSM1 Myb-like, SWIRM and MPN domains 1
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
NDC1 NDC1 transmembrane nucleoporin
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NOG noggin
NOTO notochord homeobox
NRARP NOTCH-regulated ankyrin repeat protein
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OSR2 odd-skipped related transciption factor 2
PAX1 paired box 1
PDS5A PDS5 cohesin associated factor A
PHC1 polyhomeotic homolog 1 (Drosophila)
PHC2 polyhomeotic homolog 2 (Drosophila)
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF20 PHD finger protein 20
PLAT plasminogen activator, tissue
PLXND1 plexin D1
PPP5C protein phosphatase 5, catalytic subunit
PRG4 proteoglycan 4
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRRX1 paired related homeobox 1
PSEN1 presenilin 1
PTCH1 patched 1
RAI1 retinoic acid induced 1
RARA retinoic acid receptor, alpha
RARB retinoic acid receptor, beta
RARG retinoic acid receptor, gamma
RHOBTB3 Rho-related BTB domain containing 3
RLBP1 retinaldehyde binding protein 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL24 ribosomal protein L24
RPL38 ribosomal protein L38
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RPS7 ribosomal protein S7
RTF1 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)
RUNX2 runt-related transcription factor 2
SCMH1 sex comb on midleg homolog 1 (Drosophila)
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEPN1 selenoprotein N, 1
SH3PXD2B SH3 and PX domains 2B
SHARPIN SHANK-associated RH domain interactor
SHH sonic hedgehog
SHOX2 short stature homeobox 2
SIX1 SIX homeobox 1
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SMOC1 SPARC related modular calcium binding 1
SOCS7 suppressor of cytokine signaling 7
SOX11 SRY (sex determining region Y)-box 11
SP3 Sp3 transcription factor
SSBP2 single-stranded DNA binding protein 2
SUCO SUN domain containing ossification factor
SULF2 sulfatase 2
SUMF1 sulfatase modifying factor 1
SYVN1 synovial apoptosis inhibitor 1, synoviolin
T T, brachyury homolog (mouse)
TACC3 transforming, acidic coiled-coil containing protein 3
TBX1 T-box 1
TBX6 T-box 6
TCF4 transcription factor 4
THRA thyroid hormone receptor, alpha
TRAM2 translocation associated membrane protein 2
TSHZ1 teashirt zinc finger homeobox 1
UNCX UNC homeobox
VANGL2 VANGL planar cell polarity protein 2
VEGFA vascular endothelial growth factor A
WNT5A wingless-type MMTV integration site family, member 5A
WNT9A wingless-type MMTV integration site family, member 9A
XBP1 X-box binding protein 1
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZEB1 zinc finger E-box binding homeobox 1
ZIC2 Zic family member 2
ZMPSTE24 zinc metallopeptidase STE24