abnormal osteoblast differentiation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description atypical production of or inability to produce skeletogenic cells that secrete osteoid, are capable of producing mineralized (hydroxyapatite) matrix, are located adjacent to or within osteoid tissue, and arise from the transformation of a preosteoblast cell (Mammalian Phenotype Ontology, MP_0008395)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008395
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Genes

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

Symbol Name
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CNN1 calponin 1, basic, smooth muscle
COL1A1 collagen, type I, alpha 1
CREB3L1 cAMP responsive element binding protein 3-like 1
CSF1 colony stimulating factor 1 (macrophage)
DKK2 dickkopf WNT signaling pathway inhibitor 2
DLX5 distal-less homeobox 5
EGFR epidermal growth factor receptor
EVC2 Ellis van Creveld syndrome 2
FBLIM1 filamin binding LIM protein 1
FGF18 fibroblast growth factor 18
FGFR3 fibroblast growth factor receptor 3
FZD9 frizzled class receptor 9
GJA1 gap junction protein, alpha 1, 43kDa
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
IGF2 insulin-like growth factor 2
IL10 interleukin 10
IL6 interleukin 6
MMP14 matrix metallopeptidase 14 (membrane-inserted)
NBR1 neighbor of BRCA1 gene 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
PPARG peroxisome proliferator-activated receptor gamma
PRKCD protein kinase C, delta
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)
SP3 Sp3 transcription factor
STAT1 signal transducer and activator of transcription 1, 91kDa
SUCO SUN domain containing ossification factor
TBX22 T-box 22
TMEM119 transmembrane protein 119
TMEM64 transmembrane protein 64
TOB1 transducer of ERBB2, 1
TWIST1 twist family bHLH transcription factor 1
TWIST2 twist family bHLH transcription factor 2
WWOX WW domain containing oxidoreductase
WWP1 WW domain containing E3 ubiquitin protein ligase 1