abnormal trabecular bone morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal structure or form of trabecular bone. (Human Phenotype Ontology, HP_0100671)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000130
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Genes

206 gene mutations causing the abnormal trabecular bone morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABHD5 abhydrolase domain containing 5
ACAN aggrecan
ACKR1 atypical chemokine receptor 1 (Duffy blood group)
ACP2 acid phosphatase 2, lysosomal
ACP5 acid phosphatase 5, tartrate resistant
ADIPOQ adiponectin, C1Q and collagen domain containing
AGER advanced glycosylation end product-specific receptor
AGTR2 angiotensin II receptor, type 2
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
AMPD3 adenosine monophosphate deaminase 3
ANKH ANKH inorganic pyrophosphate transport regulator
ANO6 anoctamin 6
APOE apolipoprotein E
ATF4 activating transcription factor 4
BGLAP bone gamma-carboxyglutamate (gla) protein
BGN biglycan
CALCB calcitonin-related polypeptide beta
CASP3 caspase 3, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CCR2 chemokine (C-C motif) receptor 2
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD47 CD47 molecule
CD68 CD68 molecule
CDC25A cell division cycle 25A
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CHAD chondroadherin
CHSY1 chondroitin sulfate synthase 1
CISD2 CDGSH iron sulfur domain 2
CIT citron rho-interacting serine/threonine kinase
CLCN7 chloride channel, voltage-sensitive 7
CLDN18 claudin 18
CLEC2D C-type lectin domain family 2, member D
CNOT3 CCR4-NOT transcription complex, subunit 3
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
CREB3L1 cAMP responsive element binding protein 3-like 1
CRTAP cartilage associated protein
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CST5 cystatin D
CTGF connective tissue growth factor
CTHRC1 collagen triple helix repeat containing 1
CTSK cathepsin K
CTSV cathepsin V
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DCSTAMP dendrocyte expressed seven transmembrane protein
DLL3 delta-like 3 (Drosophila)
EBF1 early B-cell factor 1
EBF2 early B-cell factor 2
EGR1 early growth response 1
EIF4E3 eukaryotic translation initiation factor 4E family member 3
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ESRRA estrogen-related receptor alpha
FAM107B family with sequence similarity 107, member B
FAM20C family with sequence similarity 20, member C
FAM73B family with sequence similarity 73, member B
FARP2 FERM, RhoGEF and pleckstrin domain protein 2
FBLIM1 filamin binding LIM protein 1
FBN1 fibrillin 1
FGF23 fibroblast growth factor 23
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXN1 forkhead box N1
FZD9 frizzled class receptor 9
GAB2 GRB2-associated binding protein 2
GALC galactosylceramidase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GATA1 GATA binding protein 1 (globin transcription factor 1)
GCM2 glial cells missing homolog 2 (Drosophila)
GHR growth hormone receptor
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPR55 G protein-coupled receptor 55
GPR65 G protein-coupled receptor 65
GSK3B glycogen synthase kinase 3 beta
HCST hematopoietic cell signal transducer
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3
HSPG2 heparan sulfate proteoglycan 2
HTRA1 HtrA serine peptidase 1
IAPP islet amyloid polypeptide
IBSP integrin-binding sialoprotein
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
IGHM immunoglobulin heavy constant mu
IHH indian hedgehog
IL10 interleukin 10
IL20RA interleukin 20 receptor, alpha
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
IRAK3 interleukin-1 receptor-associated kinase 3
IRS1 insulin receptor substrate 1
ISG15 ISG15 ubiquitin-like modifier
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK1 Janus kinase 1
JDP2 Jun dimerization protein 2
KITLG KIT ligand
KL klotho
KLF10 Kruppel-like factor 10
LBR lamin B receptor
LECT1 leukocyte cell derived chemotaxin 1
LMNA lamin A/C
LRP5 low density lipoprotein receptor-related protein 5
LRRK1 leucine-rich repeat kinase 1
LTBP3 latent transforming growth factor beta binding protein 3
MCPH1 microcephalin 1
MEPE matrix extracellular phosphoglycoprotein
MGP matrix Gla protein
MIA3 melanoma inhibitory activity family, member 3
MITF microphthalmia-associated transcription factor
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MSX2 msh homeobox 2
NACA nascent polypeptide-associated complex alpha subunit
NBR1 neighbor of BRCA1 gene 1
NCOR2 nuclear receptor corepressor 2
NFE2 nuclear factor, erythroid 2
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NLRP3 NLR family, pyrin domain containing 3
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOV nephroblastoma overexpressed
NPR2 natriuretic peptide receptor 2
NPR3 natriuretic peptide receptor 3
NPY2R neuropeptide Y receptor Y2
OCLN occludin
OSTM1 osteopetrosis associated transmembrane protein 1
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PCOLCE procollagen C-endopeptidase enhancer
PDIA3 protein disulfide isomerase family A, member 3
PDK4 pyruvate dehydrogenase kinase, isozyme 4
PGR progesterone receptor
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF20 PHD finger protein 20
PHOSPHO1 phosphatase, orphan 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLXNA1 plexin A1
POSTN periostin, osteoblast specific factor
PPARG peroxisome proliferator-activated receptor gamma
PRDM5 PR domain containing 5
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKD3 protein kinase D3
PRRX1 paired related homeobox 1
PTH parathyroid hormone
PTHLH parathyroid hormone-like hormone
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTPRE protein tyrosine phosphatase, receptor type, E
PYY peptide YY
QRFPR pyroglutamylated RFamide peptide receptor
RASSF2 Ras association (RalGDS/AF-6) domain family member 2
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SATB2 SATB homeobox 2
SBNO2 strawberry notch homolog 2 (Drosophila)
SFRP1 secreted frizzled-related protein 1
SGPL1 sphingosine-1-phosphate lyase 1
SH3BP2 SH3-domain binding protein 2
SIGLEC15 sialic acid binding Ig-like lectin 15
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC39A14 solute carrier family 39 (zinc transporter), member 14
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SMURF1 SMAD specific E3 ubiquitin protein ligase 1
SNAPC4 small nuclear RNA activating complex, polypeptide 4, 190kDa
SOST sclerostin
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPP1 secreted phosphoprotein 1
SQSTM1 sequestosome 1
SRC SRC proto-oncogene, non-receptor tyrosine kinase
STAT1 signal transducer and activator of transcription 1, 91kDa
SUCO SUN domain containing ossification factor
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TMEM119 transmembrane protein 119
TMEM64 transmembrane protein 64
TNF tumor necrosis factor
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
TOB1 transducer of ERBB2, 1
TOB2 transducer of ERBB2, 2
TRPV5 transient receptor potential cation channel, subfamily V, member 5
TWSG1 twisted gastrulation BMP signaling modulator 1
TYROBP TYRO protein tyrosine kinase binding protein
VCP valosin containing protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WWOX WW domain containing oxidoreductase
XYLT1 xylosyltransferase I
ZDHHC13 zinc finger, DHHC-type containing 13
ZMPSTE24 zinc metallopeptidase STE24