bone development disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. (Human Disease Ontology, DOID_0080006)
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Genes

52 genes involed in the disease bone development disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ALX4 ALX homeobox 4
ANO5 anoctamin 5
ASXL1 additional sex combs like transcriptional regulator 1
BMP1 bone morphogenetic protein 1
CD96 CD96 molecule
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
CRTAP cartilage associated protein
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DLL3 delta-like 3 (Drosophila)
ERF Ets2 repressor factor
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKBP10 FK506 binding protein 10, 65 kDa
FLNB filamin B, beta
FREM1 FRAS1 related extracellular matrix 1
GLI3 GLI family zinc finger 3
HES7 hes family bHLH transcription factor 7
IFITM5 interferon induced transmembrane protein 5
IL11RA interleukin 11 receptor, alpha
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LRP5 low density lipoprotein receptor-related protein 5
MATN3 matrilin 3
MEGF8 multiple EGF-like-domains 8
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MSX2 msh homeobox 2
P3H1 prolyl 3-hydroxylase 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
POR P450 (cytochrome) oxidoreductase
PPIB peptidylprolyl isomerase B (cyclophilin B)
RAB23 RAB23, member RAS oncogene family
RECQL4 RecQ protein-like 4
RUNX2 runt-related transcription factor 2
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SKI SKI proto-oncogene
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SOX9 SRY (sex determining region Y)-box 9
SP7 Sp7 transcription factor
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
TCF12 transcription factor 12
TGFBR1 transforming growth factor, beta receptor 1
TMEM38B transmembrane protein 38B
TWIST1 twist family bHLH transcription factor 1
WNT1 wingless-type MMTV integration site family, member 1