abnormal long bone morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the bones that consist of a tubular shaft (diaphysis) and two ends that are wider than the shaft (epiphysis); long bones include the femora, tibiae, and fibulae, and the humeri, radii, and ulnae of the limbs; metacarpals and metatarsals of the autopods, the phalanges of the digits, and the clavicles (Mammalian Phenotype Ontology, MP_0003723)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003723
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Genes

372 gene mutations causing the abnormal 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)
ALPL alkaline phosphatase, liver/bone/kidney
ALX4 ALX homeobox 4
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANO6 anoctamin 6
ANTXR1 anthrax toxin receptor 1
ARSB arylsulfatase B
ASCC3 activating signal cointegrator 1 complex subunit 3
ATF2 activating transcription factor 2
ATF4 activating transcription factor 4
ATN1 atrophin 1
BAG3 BCL2-associated athanogene 3
BBS5 Bardet-Biedl syndrome 5
BBX bobby sox homolog (Drosophila)
BGLAP bone gamma-carboxyglutamate (gla) protein
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
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CBFB core-binding factor, beta subunit
CD44 CD44 molecule (Indian blood group)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CENPJ centromere protein J
CHAD chondroadherin
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
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL12A1 collagen, type XII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL27A1 collagen, type XXVII, alpha 1
COL2A1 collagen, type II, alpha 1
COL7A1 collagen, type VII, alpha 1
COL9A1 collagen, type IX, alpha 1
COMP cartilage oligomeric matrix protein
CREB3L1 cAMP responsive element binding protein 3-like 1
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
CST5 cystatin D
CTGF connective tissue growth factor
CTSK cathepsin K
CTSV cathepsin V
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
DDR2 discoidin domain receptor tyrosine kinase 2
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
DUSP6 dual specificity phosphatase 6
DYM dymeclin
EBF1 early B-cell factor 1
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
EXT1 exostosin glycosyltransferase 1
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
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGFRL1 fibroblast growth factor receptor-like 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNB filamin B, beta
FMN1 formin 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSL2 FOS-like antigen 2
FOXC1 forkhead box C1
FREM2 FRAS1 related extracellular matrix protein 2
FRZB frizzled-related protein
FSHR follicle stimulating hormone receptor
FSTL1 follistatin-like 1
FUZ fuzzy planar cell polarity protein
G6PC glucose-6-phosphatase, catalytic subunit
GALC galactosylceramidase
GALNS galactosamine (N-acetyl)-6-sulfatase
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
GLG1 golgi glycoprotein 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
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
GSN gelsolin
GSX1 GS homeobox 1
GUSB glucuronidase, beta
HAPLN1 hyaluronan and proteoglycan link protein 1
HCST hematopoietic cell signal transducer
HDAC4 histone deacetylase 4
HELLS helicase, lymphoid-specific
HOXA11 homeobox A11
HOXA13 homeobox A13
HOXA3 homeobox A3
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
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
IFT88 intraflagellar transport 88
IGF1 insulin-like growth factor 1 (somatomedin C)
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
ITGB1BP1 integrin beta 1 binding protein 1
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
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
KIF3A kinesin family member 3A
KL klotho
KLF10 Kruppel-like factor 10
LBR lamin B receptor
LEP leptin
LEPR leptin receptor
LGALS3 lectin, galactoside-binding, soluble, 3
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
LTBP3 latent transforming growth factor beta binding protein 3
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
MATN1 matrilin 1, cartilage matrix protein
MATN3 matrilin 3
MC3R melanocortin 3 receptor
MEX3C mex-3 RNA binding family member C
MGP matrix Gla protein
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
MYO10 myosin X
NABP2 nucleic acid binding protein 2
NBR1 neighbor of BRCA1 gene 1
NCDN neurochondrin
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFXL1 nuclear transcription factor, X-box binding-like 1
NIPBL Nipped-B homolog (Drosophila)
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
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OSTM1 osteopetrosis associated transmembrane protein 1
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PAPPA2 pappalysin 2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX1 paired box 1
PBX1 pre-B-cell leukemia homeobox 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
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLXNA1 plexin A1
PORCN porcupine homolog (Drosophila)
POSTN periostin, osteoblast specific factor
PRDM4 PR domain containing 4
PRG4 proteoglycan 4
PRKCD protein kinase C, delta
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
PTPN9 protein tyrosine phosphatase, non-receptor type 9
PTPRC protein tyrosine phosphatase, receptor type, C
PTPRE protein tyrosine phosphatase, receptor type, E
RAB23 RAB23, member RAS oncogene family
RAI1 retinoic acid induced 1
RBL1 retinoblastoma-like 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
RGS10 regulator of G-protein signaling 10
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
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
SH3BP2 SH3-domain binding 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
SLC30A5 solute carrier family 30 (zinc transporter), member 5
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
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
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SMAD3 SMAD family member 3
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMOC1 SPARC related modular calcium binding 1
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SNAP25 synaptosomal-associated protein, 25kDa
SNAPC4 small nuclear RNA activating complex, polypeptide 4, 190kDa
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
SP7 Sp7 transcription factor
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
STARD10 StAR-related lipid transfer (START) domain containing 10
STAT1 signal transducer and activator of transcription 1, 91kDa
SUCO SUN domain containing ossification factor
SUMF1 sulfatase modifying factor 1
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)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
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
TM7SF2 transmembrane 7 superfamily member 2
TMEM107 transmembrane protein 107
TNF tumor necrosis factor
TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial)
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNNT3 troponin T type 3 (skeletal, fast)
TNS3 tensin 3
TP53 tumor protein p53
TP63 tumor protein p63
TPO thyroid peroxidase
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TRPV5 transient receptor potential cation channel, subfamily V, member 5
TWIST1 twist family bHLH transcription factor 1
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
WNT9A wingless-type MMTV integration site family, member 9A
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
ZNF521 zinc finger protein 521