abnormal osteoblast morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural 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_0004986)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004986
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Genes

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

Symbol Name
ADIPOQ adiponectin, C1Q and collagen domain containing
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
ALPL alkaline phosphatase, liver/bone/kidney
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATF4 activating transcription factor 4
BGN biglycan
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CLCN7 chloride channel, voltage-sensitive 7
CNN1 calponin 1, basic, smooth muscle
COL12A1 collagen, type XII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
CREB3L1 cAMP responsive element binding protein 3-like 1
CRH corticotropin releasing hormone
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CTHRC1 collagen triple helix repeat containing 1
DKK2 dickkopf WNT signaling pathway inhibitor 2
DLX5 distal-less homeobox 5
EBF1 early B-cell factor 1
EGFR epidermal growth factor receptor
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
ESRRA estrogen-related receptor alpha
EVC2 Ellis van Creveld syndrome 2
FBLIM1 filamin binding LIM protein 1
FGF18 fibroblast growth factor 18
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FOS FBJ murine osteosarcoma viral oncogene homolog
FZD9 frizzled class receptor 9
GATA1 GATA binding protein 1 (globin transcription factor 1)
GJA1 gap junction protein, alpha 1, 43kDa
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3
HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
IDUA iduronidase, alpha-L-
IGF2 insulin-like growth factor 2
IHH indian hedgehog
IL10 interleukin 10
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa
IRAK3 interleukin-1 receptor-associated kinase 3
IRS1 insulin receptor substrate 1
ITGB1BP1 integrin beta 1 binding protein 1
JAM2 junctional adhesion molecule 2
KL klotho
KLF10 Kruppel-like factor 10
LRP5 low density lipoprotein receptor-related protein 5
MIA3 melanoma inhibitory activity family, member 3
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
NACA nascent polypeptide-associated complex alpha subunit
NBR1 neighbor of BRCA1 gene 1
NF2 neurofibromin 2 (merlin)
NFE2 nuclear factor, erythroid 2
NPR3 natriuretic peptide receptor 3
NPY4R neuropeptide Y receptor Y4
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NXN nucleoredoxin
PER1 period circadian clock 1
PHEX phosphate regulating endopeptidase homolog, X-linked
PPARG peroxisome proliferator-activated receptor gamma
PRDM5 PR domain containing 5
PRKCD protein kinase C, delta
PTH parathyroid hormone
PTHLH parathyroid hormone-like hormone
RASSF2 Ras association (RalGDS/AF-6) domain family member 2
RUNX2 runt-related transcription factor 2
SBNO2 strawberry notch homolog 2 (Drosophila)
SH3BP2 SH3-domain binding protein 2
SIGLEC15 sialic acid binding Ig-like lectin 15
SLC30A5 solute carrier family 30 (zinc transporter), member 5
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SOST sclerostin
SP3 Sp3 transcription factor
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
STAT1 signal transducer and activator of transcription 1, 91kDa
SUCO SUN domain containing ossification factor
TBX22 T-box 22
TGFB1 transforming growth factor, beta 1
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
TOB1 transducer of ERBB2, 1
TRIP11 thyroid hormone receptor interactor 11
TWIST1 twist family bHLH transcription factor 1
TWIST2 twist family bHLH transcription factor 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WWOX WW domain containing oxidoreductase
WWP1 WW domain containing E3 ubiquitin protein ligase 1