osteoporosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis. (Experimental Factor Ontology, EFO_0003882)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000939
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Genes

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

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
AIP aryl hydrocarbon receptor interacting protein
ANTXR2 anthrax toxin receptor 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
BANF1 barrier to autointegration factor 1
BMP1 bone morphogenetic protein 1
CANT1 calcium activated nucleotidase 1
CBS cystathionine-beta-synthase
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
CTC1 CTS telomere maintenance complex component 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DKC1 dyskeratosis congenita 1, dyskerin
DUSP6 dual specificity phosphatase 6
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ERCC6 excision repair cross-complementation group 6
FGF17 fibroblast growth factor 17
FLRT3 fibronectin leucine rich transmembrane protein 3
FSHR follicle stimulating hormone receptor
G6PC glucose-6-phosphatase, catalytic subunit
GALNS galactosamine (N-acetyl)-6-sulfatase
GK glycerol kinase
GLB1 galactosidase, beta 1
GNAS GNAS complex locus
GORAB golgin, RAB6-interacting
HFE hemochromatosis
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPG2 heparan sulfate proteoglycan 2
IFT122 intraflagellar transport 122
IL17RD interleukin 17 receptor D
LIFR leukemia inhibitory factor receptor alpha
LMNA lamin A/C
LRP5 low density lipoprotein receptor-related protein 5
MALT1 MALT1 paracaspase
MMP2 matrix metallopeptidase 2
NDN necdin, melanoma antigen (MAGE) family member
NOP10 NOP10 ribonucleoprotein
NOTCH2 notch 2
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDE11A phosphodiesterase 11A
PEX12 peroxisomal biogenesis factor 12
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLS3 plastin 3
POF1B premature ovarian failure, 1B
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTRF polymerase I and transcript release factor
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RECQL4 RecQ protein-like 4
RIN2 Ras and Rab interactor 2
RUNX2 runt-related transcription factor 2
SC5D sterol-C5-desaturase
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SMAD3 SMAD family member 3
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMS spermine synthase
SNRPN small nuclear ribonucleoprotein polypeptide N
SP7 Sp7 transcription factor
TERC telomerase RNA component
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMEM165 transmembrane protein 165
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
WISP3 WNT1 inducible signaling pathway protein 3
WRN Werner syndrome, RecQ helicase-like
ZBTB20 zinc finger and BTB domain containing 20