decreased length of long bones Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced end-to-end length of the several elongated bones of the extremities (Mammalian Phenotype Ontology, MP_0004686)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004686
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Genes

201 gene mutations causing the decreased length of long bones 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
ALX4 ALX homeobox 4
ANKH ANKH inorganic pyrophosphate transport regulator
ARSB arylsulfatase B
ATN1 atrophin 1
BAG3 BCL2-associated athanogene 3
BBS5 Bardet-Biedl syndrome 5
BBX bobby sox homolog (Drosophila)
BGN biglycan
BMP5 bone morphogenetic protein 5
BMPR1B bone morphogenetic protein receptor, type IB
CBFB core-binding factor, beta subunit
CD44 CD44 molecule (Indian blood group)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHKB choline kinase beta
CHPF chondroitin polymerizing factor
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CLEC2D C-type lectin domain family 2, member D
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL12A1 collagen, type XII, alpha 1
COL1A1 collagen, type I, 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
CRTAP cartilage associated protein
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
DDR2 discoidin domain receptor tyrosine kinase 2
DMP1 dentin matrix acidic phosphoprotein 1
DNASE1L2 deoxyribonuclease I-like 2
DRD2 dopamine receptor D2
DYM dymeclin
EBF2 early B-cell factor 2
EGR2 early growth response 2
ELMOD1 ELMO/CED-12 domain containing 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
FAM63A family with sequence similarity 63, member A
FBN1 fibrillin 1
FGF18 fibroblast growth factor 18
FGF23 fibroblast growth factor 23
FGF9 fibroblast growth factor 9
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNB filamin B, beta
FMN1 formin 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC1 forkhead box C1
GAS1 growth arrest-specific 1
GDF5 growth differentiation factor 5
GGT1 gamma-glutamyltransferase 1
GHR growth hormone receptor
GHRHR growth hormone releasing hormone receptor
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GPER1 G protein-coupled estrogen receptor 1
GRHL3 grainyhead-like 3 (Drosophila)
GUSB glucuronidase, beta
HAPLN1 hyaluronan and proteoglycan link protein 1
HELLS helicase, lymphoid-specific
HOXA11 homeobox A11
HOXC10 homeobox C10
HOXD11 homeobox D11
HOXD12 homeobox D12
HOXD13 homeobox D13
HOXD9 homeobox D9
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
HSPG2 heparan sulfate proteoglycan 2
IBSP integrin-binding sialoprotein
IDUA iduronidase, alpha-L-
IFT172 intraflagellar transport 172
IFT80 intraflagellar transport 80
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
IRF6 interferon regulatory factor 6
IRS1 insulin receptor substrate 1
ITGA10 integrin, alpha 10
ITGB1BP1 integrin beta 1 binding protein 1
JDP2 Jun dimerization protein 2
KCNJ9 potassium channel, inwardly rectifying subfamily J, member 9
KIAA1715 KIAA1715
KIF3A kinesin family member 3A
KL klotho
LEP leptin
LEPR leptin receptor
LMBR1 limb development membrane protein 1
LRRK1 leucine-rich repeat kinase 1
LTBP3 latent transforming growth factor beta binding protein 3
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
MITF microphthalmia-associated transcription factor
MKS1 Meckel syndrome, type 1
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP16 matrix metallopeptidase 16 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MSTN myostatin
MSX2 msh homeobox 2
MXRA7 matrix-remodelling associated 7
NABP2 nucleic acid binding protein 2
NFXL1 nuclear transcription factor, X-box binding-like 1
NIPBL Nipped-B homolog (Drosophila)
NOS3 nitric oxide synthase 3 (endothelial cell)
NPPC natriuretic peptide C
NPR2 natriuretic peptide receptor 2
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OFD1 oral-facial-digital syndrome 1
OSTM1 osteopetrosis associated transmembrane protein 1
PAPPA2 pappalysin 2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PDS5B PDS5 cohesin associated factor B
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
POSTN periostin, osteoblast specific factor
PRDM4 PR domain containing 4
PRKG2 protein kinase, cGMP-dependent, type II
PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2
PRRX1 paired related homeobox 1
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
RCAN2 regulator of calcineurin 2
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL38 ribosomal protein L38
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RSPO2 R-spondin 2
RUNX2 runt-related transcription factor 2
RYK receptor-like tyrosine kinase
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
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC38A10 solute carrier family 38, member 10
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC39A14 solute carrier family 39 (zinc transporter), member 14
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SMOC1 SPARC related modular calcium binding 1
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SNAPC4 small nuclear RNA activating complex, polypeptide 4, 190kDa
SP8 Sp8 transcription factor
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPRED2 sprouty-related, EVH1 domain containing 2
SPTBN1 spectrin, beta, non-erythrocytic 1
SRC SRC proto-oncogene, non-receptor tyrosine kinase
SUMF1 sulfatase modifying factor 1
TBX15 T-box 15
TBX4 T-box 4
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TGFB2 transforming growth factor, beta 2
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial)
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRPS1 trichorhinophalangeal syndrome I
TWSG1 twisted gastrulation BMP signaling modulator 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VKORC1 vitamin K epoxide reductase complex, subunit 1
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
WNT9A wingless-type MMTV integration site family, member 9A
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