osteolysis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. (Human Phenotype Ontology, HP_0002797)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002797
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Genes

57 genes associated with the osteolysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ANTXR2 anthrax toxin receptor 2
APC adenomatous polyposis coli
ATL3 atlastin GTPase 3
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BANF1 barrier to autointegration factor 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CAV1 caveolin 1, caveolae protein, 22kDa
CCR6 chemokine (C-C motif) receptor 6
CEP57 centrosomal protein 57kDa
COL3A1 collagen, type III, alpha 1
CTGF connective tissue growth factor
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSC cathepsin C
CTSK cathepsin K
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FAM134B family with sequence similarity 134, member B
FLNA filamin A, alpha
GBA glucosidase, beta, acid
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IRF5 interferon regulatory factor 5
KIF1A kinesin family member 1A
LMNA lamin A/C
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MBTPS2 membrane-bound transcription factor peptidase, site 2
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
NOTCH2 notch 2
NOTCH3 notch 3
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PTCH1 patched 1
PTH1R parathyroid hormone 1 receptor
SCARB2 scavenger receptor class B, member 2
SCN9A sodium channel, voltage gated, type IX alpha subunit
SH3PXD2B SH3 and PX domains 2B
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLURP1 secreted LY6/PLAUR domain containing 1
SQSTM1 sequestosome 1
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNXB tenascin XB
TRPV3 transient receptor potential cation channel, subfamily V, member 3
UROS uroporphyrinogen III synthase
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WNK1 WNK lysine deficient protein kinase 1
ZBTB20 zinc finger and BTB domain containing 20
ZMPSTE24 zinc metallopeptidase STE24