abnormal limb long bone morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of any of the several elongated bones of the extremities (Mammalian Phenotype Ontology, MP_0011504)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011504
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Genes

276 gene mutations causing the abnormal limb long bone morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
ACP5 acid phosphatase 5, tartrate resistant
ACVR1 activin A receptor, type I
ADGRF5 adhesion G protein-coupled receptor F5
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ALX4 ALX homeobox 4
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANO6 anoctamin 6
ASCC3 activating signal cointegrator 1 complex subunit 3
ATN1 atrophin 1
BAG3 BCL2-associated athanogene 3
BBS5 Bardet-Biedl syndrome 5
BGN biglycan
BLZF1 basic leucine zipper nuclear factor 1
BMP5 bone morphogenetic protein 5
BMPER BMP binding endothelial regulator
BMPR1B bone morphogenetic protein receptor, type IB
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CBFB core-binding factor, beta subunit
CD44 CD44 molecule (Indian blood group)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CENPJ centromere protein J
CHKB choline kinase beta
CHPF chondroitin polymerizing factor
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHSY1 chondroitin sulfate synthase 1
CHUK conserved helix-loop-helix ubiquitous kinase
CLEC2D C-type lectin domain family 2, member D
CNN1 calponin 1, basic, smooth muscle
COL10A1 collagen, type X, alpha 1
COL12A1 collagen, type XII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL9A1 collagen, type IX, alpha 1
COMP cartilage oligomeric matrix protein
CREB3L1 cAMP responsive element binding protein 3-like 1
CSF1 colony stimulating factor 1 (macrophage)
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
CST5 cystatin D
CTGF connective tissue growth factor
CTSK cathepsin K
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DMP1 dentin matrix acidic phosphoprotein 1
DNASE1L2 deoxyribonuclease I-like 2
DRD2 dopamine receptor D2
DUSP3 dual specificity phosphatase 3
DYM dymeclin
EBF2 early B-cell factor 2
EGR2 early growth response 2
ELMOD1 ELMO/CED-12 domain containing 1
EN1 engrailed homeobox 1
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EVX2 even-skipped homeobox 2
FAM134C family with sequence similarity 134, member C
FAM151B family with sequence similarity 151, member B
FAM20C family with sequence similarity 20, member C
FAM63A family with sequence similarity 63, member A
FBN1 fibrillin 1
FBN2 fibrillin 2
FGF10 fibroblast growth factor 10
FGF18 fibroblast growth factor 18
FGF21 fibroblast growth factor 21
FGF23 fibroblast growth factor 23
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FLNB filamin B, beta
FMN1 formin 1
FOXC1 forkhead box C1
FREM2 FRAS1 related extracellular matrix protein 2
FRZB frizzled-related protein
FSHR follicle stimulating hormone receptor
FSTL1 follistatin-like 1
GALC galactosylceramidase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GAS1 growth arrest-specific 1
GDF5 growth differentiation factor 5
GGT1 gamma-glutamyltransferase 1
GHR growth hormone receptor
GHRHR growth hormone releasing hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GLCE glucuronic acid epimerase
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GPER1 G protein-coupled estrogen receptor 1
GPR87 G protein-coupled receptor 87
GREM1 gremlin 1, DAN family BMP antagonist
GRHL3 grainyhead-like 3 (Drosophila)
GSC goosecoid homeobox
HELLS helicase, lymphoid-specific
HOXA11 homeobox A11
HOXA13 homeobox A13
HOXC10 homeobox C10
HOXC8 homeobox C8
HOXD11 homeobox D11
HOXD12 homeobox D12
HOXD13 homeobox D13
HOXD9 homeobox D9
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSPG2 heparan sulfate proteoglycan 2
IBSP integrin-binding sialoprotein
IDUA iduronidase, alpha-L-
IFT172 intraflagellar transport 172
IFT88 intraflagellar transport 88
IGF2 insulin-like growth factor 2
IGFALS insulin-like growth factor binding protein, acid labile subunit
IHH indian hedgehog
IL10 interleukin 10
IL6ST interleukin 6 signal transducer
IMPAD1 inositol monophosphatase domain containing 1
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IRAK3 interleukin-1 receptor-associated kinase 3
IRF6 interferon regulatory factor 6
IRS1 insulin receptor substrate 1
ITGA10 integrin, alpha 10
JAG2 jagged 2
JDP2 Jun dimerization protein 2
KAT6B K(lysine) acetyltransferase 6B
KCNJ9 potassium channel, inwardly rectifying subfamily J, member 9
KCTD10 potassium channel tetramerization domain containing 10
KIAA1715 KIAA1715
KL klotho
KLF10 Kruppel-like factor 10
LEP leptin
LEPR leptin receptor
LGI4 leucine-rich repeat LGI family, member 4
LIFR leukemia inhibitory factor receptor alpha
LIMK2 LIM domain kinase 2
LMBR1 limb development membrane protein 1
LMX1B LIM homeobox transcription factor 1, beta
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LRRK1 leucine-rich repeat kinase 1
LTA lymphotoxin alpha
LTBP1 latent transforming growth factor beta binding protein 1
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
MATN3 matrilin 3
MC3R melanocortin 3 receptor
MEX3C mex-3 RNA binding family member C
MIB2 mindbomb E3 ubiquitin protein ligase 2
MIR140 microRNA 140
MKS1 Meckel syndrome, type 1
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP16 matrix metallopeptidase 16 (membrane-inserted)
MMP9 matrix metallopeptidase 9
MSTN myostatin
MSX2 msh homeobox 2
MXRA7 matrix-remodelling associated 7
MYO10 myosin X
NABP2 nucleic acid binding protein 2
NBR1 neighbor of BRCA1 gene 1
NFXL1 nuclear transcription factor, X-box binding-like 1
NLRP3 NLR family, pyrin domain containing 3
NOS3 nitric oxide synthase 3 (endothelial cell)
NOV nephroblastoma overexpressed
NPPC natriuretic peptide C
NPR2 natriuretic peptide receptor 2
NPR3 natriuretic peptide receptor 3
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OCLN occludin
OFD1 oral-facial-digital syndrome 1
OSTM1 osteopetrosis associated transmembrane protein 1
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PAPPA2 pappalysin 2
PAX1 paired box 1
PCOLCE procollagen C-endopeptidase enhancer
PCSK5 proprotein convertase subtilisin/kexin type 5
PDS5B PDS5 cohesin associated factor B
PGR progesterone receptor
PHEX phosphate regulating endopeptidase homolog, X-linked
PHOSPHO1 phosphatase, orphan 1
PIP4K2B phosphatidylinositol-5-phosphate 4-kinase, type II, beta
PITX1 paired-like homeodomain 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
PLAGL1 pleiomorphic adenoma gene-like 1
PORCN porcupine homolog (Drosophila)
POSTN periostin, osteoblast specific factor
PRDM4 PR domain containing 4
PRKD3 protein kinase D3
PRKG2 protein kinase, cGMP-dependent, type II
PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2
PRRX1 paired related homeobox 1
PSTPIP2 proline-serine-threonine phosphatase interacting protein 2
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTPRE protein tyrosine phosphatase, receptor type, E
RAB23 RAB23, member RAS oncogene family
RAI1 retinoic acid induced 1
RCAN2 regulator of calcineurin 2
RDH10 retinol dehydrogenase 10 (all-trans)
RECK reversion-inducing-cysteine-rich protein with kazal motifs
RECQL4 RecQ protein-like 4
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL38 ribosomal protein L38
RSPO2 R-spondin 2
RUNX2 runt-related transcription factor 2
RYK receptor-like tyrosine kinase
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SC5D sterol-C5-desaturase
SCX scleraxis basic helix-loop-helix transcription factor
SFN stratifin
SFRP2 secreted frizzled-related protein 2
SH3GL2 SH3-domain GRB2-like 2
SHH sonic hedgehog
SIK3 SIK family kinase 3
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC39A14 solute carrier family 39 (zinc transporter), member 14
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SMOC1 SPARC related modular calcium binding 1
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SOCS2 suppressor of cytokine signaling 2
SOST sclerostin
SOX11 SRY (sex determining region Y)-box 11
SOX13 SRY (sex determining region Y)-box 13
SOX9 SRY (sex determining region Y)-box 9
SP3 Sp3 transcription factor
SP8 Sp8 transcription factor
SPRED2 sprouty-related, EVH1 domain containing 2
STARD10 StAR-related lipid transfer (START) domain containing 10
STAT1 signal transducer and activator of transcription 1, 91kDa
TBX15 T-box 15
TBX3 T-box 3
TBX4 T-box 4
TBX5 T-box 5
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TGFBR3 transforming growth factor, beta receptor III
THBS3 thrombospondin 3
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TMEM107 transmembrane protein 107
TNF tumor necrosis factor
TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial)
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TP53 tumor protein p53
TP63 tumor protein p63
TPO thyroid peroxidase
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TWSG1 twisted gastrulation BMP signaling modulator 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VKORC1 vitamin K epoxide reductase complex, subunit 1
WDR19 WD repeat domain 19
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
XYLT1 xylosyltransferase I
YIPF1 Yip1 domain family, member 1
ZBTB16 zinc finger and BTB domain containing 16
ZEB1 zinc finger E-box binding homeobox 1
ZIC2 Zic family member 2
ZMPSTE24 zinc metallopeptidase STE24