abnormal compact bone thickness Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced or increased width of the superficial layer of compact bone (Mammalian Phenotype Ontology, MP_0000134)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000134
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Genes

81 gene mutations causing the abnormal compact bone thickness phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADIPOQ adiponectin, C1Q and collagen domain containing
AGER advanced glycosylation end product-specific receptor
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
ANKH ANKH inorganic pyrophosphate transport regulator
APOE apolipoprotein E
ARHGAP1 Rho GTPase activating protein 1
BGLAP bone gamma-carboxyglutamate (gla) protein
BGN biglycan
CLDN18 claudin 18
CLEC2D C-type lectin domain family 2, member D
CNOT3 CCR4-NOT transcription complex, subunit 3
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
DLL3 delta-like 3 (Drosophila)
EBF2 early B-cell factor 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
FAM20C family with sequence similarity 20, member C
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNB filamin B, beta
FOS FBJ murine osteosarcoma viral oncogene homolog
FRZB frizzled-related protein
FZD9 frizzled class receptor 9
GALC galactosylceramidase
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
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)
KITLG KIT ligand
KL klotho
KLF10 Kruppel-like factor 10
LMNA lamin A/C
LRRK1 leucine-rich repeat kinase 1
MSTN myostatin
MSX2 msh homeobox 2
NCOR2 nuclear receptor corepressor 2
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NLRP3 NLR family, pyrin domain containing 3
NOS3 nitric oxide synthase 3 (endothelial cell)
NOV nephroblastoma overexpressed
PCOLCE procollagen C-endopeptidase enhancer
PGR progesterone receptor
PHEX phosphate regulating endopeptidase homolog, X-linked
PHOSPHO1 phosphatase, orphan 1
PTH parathyroid hormone
PTHLH parathyroid hormone-like hormone
RUNX2 runt-related transcription factor 2
SLC30A5 solute carrier family 30 (zinc transporter), member 5
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMURF1 SMAD specific E3 ubiquitin protein ligase 1
SOST sclerostin
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
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