abnormal compact bone morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. (Human Phenotype Ontology, HP_0003103)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003797
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Genes

122 gene mutations causing the abnormal compact 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
ACP2 acid phosphatase 2, lysosomal
ADIPOQ adiponectin, C1Q and collagen domain containing
AGER advanced glycosylation end product-specific receptor
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
APOE apolipoprotein E
ARHGAP1 Rho GTPase activating protein 1
BGLAP bone gamma-carboxyglutamate (gla) protein
BGN biglycan
CAV1 caveolin 1, caveolae protein, 22kDa
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CHAD chondroadherin
CLDN18 claudin 18
CLEC2D C-type lectin domain family 2, member D
CNOT3 CCR4-NOT transcription complex, subunit 3
COL12A1 collagen, type XII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
CREB3L1 cAMP responsive element binding protein 3-like 1
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CTNS cystinosin, lysosomal cystine transporter
CTSK cathepsin K
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DLL3 delta-like 3 (Drosophila)
DMP1 dentin matrix acidic phosphoprotein 1
EBF2 early B-cell factor 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
FAM20C family with sequence similarity 20, member C
FGF23 fibroblast growth factor 23
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNB filamin B, beta
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXN1 forkhead box N1
FRZB frizzled-related protein
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)
GHR growth hormone receptor
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GSK3B glycogen synthase kinase 3 beta
GSN gelsolin
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3
HSPG2 heparan sulfate proteoglycan 2
IAPP islet amyloid polypeptide
IBSP integrin-binding sialoprotein
IGF2 insulin-like growth factor 2
IGHM immunoglobulin heavy constant mu
IL10 interleukin 10
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
IRAK3 interleukin-1 receptor-associated kinase 3
IRS1 insulin receptor substrate 1
ISG15 ISG15 ubiquitin-like modifier
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK1 Janus kinase 1
KITLG KIT ligand
KL klotho
KLF10 Kruppel-like factor 10
LMNA lamin A/C
LRP5 low density lipoprotein receptor-related protein 5
LRRK1 leucine-rich repeat kinase 1
MGP matrix Gla protein
MMP2 matrix metallopeptidase 2
MSTN myostatin
MSX2 msh homeobox 2
NCOR2 nuclear receptor corepressor 2
NFE2 nuclear factor, erythroid 2
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NLRP3 NLR family, pyrin domain containing 3
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOV nephroblastoma overexpressed
OSTM1 osteopetrosis associated transmembrane protein 1
P2RY13 purinergic receptor P2Y, G-protein coupled, 13
PCOLCE procollagen C-endopeptidase enhancer
PDIA3 protein disulfide isomerase family A, member 3
PGR progesterone receptor
PHEX phosphate regulating endopeptidase homolog, X-linked
PHOSPHO1 phosphatase, orphan 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
POSTN periostin, osteoblast specific factor
PRDM5 PR domain containing 5
PTH parathyroid hormone
PTHLH parathyroid hormone-like hormone
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RUNX2 runt-related transcription factor 2
SH3BP2 SH3-domain binding protein 2
SIGLEC15 sialic acid binding Ig-like lectin 15
SLC30A5 solute carrier family 30 (zinc transporter), member 5
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SMURF1 SMAD specific E3 ubiquitin protein ligase 1
SOST sclerostin
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
THBS2 thrombospondin 2
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TMEM119 transmembrane protein 119
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TRPV5 transient receptor potential cation channel, subfamily V, member 5
VCP valosin containing protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WNT16 wingless-type MMTV integration site family, member 16
WWOX WW domain containing oxidoreductase
ZMPSTE24 zinc metallopeptidase STE24