abnormal osteoblast physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of a skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell (Mammalian Phenotype Ontology, MP_0005006)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005006
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Genes

53 gene mutations causing the abnormal osteoblast physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADIPOQ adiponectin, C1Q and collagen domain containing
ADRB2 adrenoceptor beta 2, surface
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
ALPL alkaline phosphatase, liver/bone/kidney
ANKH ANKH inorganic pyrophosphate transport regulator
ANO6 anoctamin 6
APOE apolipoprotein E
AXIN2 axin 2
CALCB calcitonin-related polypeptide beta
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CLEC2D C-type lectin domain family 2, member D
COL12A1 collagen, type XII, alpha 1
COL1A1 collagen, type I, alpha 1
CRTAP cartilage associated protein
CSF1 colony stimulating factor 1 (macrophage)
CTHRC1 collagen triple helix repeat containing 1
CTSK cathepsin K
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FZD9 frizzled class receptor 9
GC group-specific component (vitamin D binding protein)
GJA1 gap junction protein, alpha 1, 43kDa
GSK3B glycogen synthase kinase 3 beta
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3
HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled
IL6ST interleukin 6 signal transducer
IRS1 insulin receptor substrate 1
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KITLG KIT ligand
KL klotho
LECT1 leukocyte cell derived chemotaxin 1
LRP5 low density lipoprotein receptor-related protein 5
MEPE matrix extracellular phosphoglycoprotein
MGP matrix Gla protein
NOS3 nitric oxide synthase 3 (endothelial cell)
NOV nephroblastoma overexpressed
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
PLEKHO1 pleckstrin homology domain containing, family O member 1
PTH1R parathyroid hormone 1 receptor
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SATB2 SATB homeobox 2
SIGLEC15 sialic acid binding Ig-like lectin 15
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMURF1 SMAD specific E3 ubiquitin protein ligase 1
SOST sclerostin
SPP1 secreted phosphoprotein 1
SUCO SUN domain containing ossification factor
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
WWOX WW domain containing oxidoreductase