osteopenia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value. (Human Phenotype Ontology, HP_0000938)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000938
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Genes

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

Symbol Name
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
ANO5 anoctamin 5
ANTXR2 anthrax toxin receptor 2
AVP arginine vasopressin
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BRAF B-Raf proto-oncogene, serine/threonine kinase
COG1 component of oligomeric golgi complex 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
CRTAP cartilage associated protein
CTC1 CTS telomere maintenance complex component 1
DCHS1 dachsous cadherin-related 1
DUSP6 dual specificity phosphatase 6
ESR1 estrogen receptor 1
FAT4 FAT atypical cadherin 4
FBN2 fibrillin 2
FGF17 fibroblast growth factor 17
FKBP10 FK506 binding protein 10, 65 kDa
FKBP14 FK506 binding protein 14, 22 kDa
FLRT3 fibronectin leucine rich transmembrane protein 3
GNAS GNAS complex locus
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IFITM5 interferon induced transmembrane protein 5
IGF1 insulin-like growth factor 1 (somatomedin C)
IL17RD interleukin 17 receptor D
IRX5 iroquois homeobox 5
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KRAS Kirsten rat sarcoma viral oncogene homolog
LRP5 low density lipoprotein receptor-related protein 5
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MMP2 matrix metallopeptidase 2
MTAP methylthioadenosine phosphorylase
NAGA N-acetylgalactosaminidase, alpha-
NDN necdin, melanoma antigen (MAGE) family member
NOTCH2 notch 2
NPR2 natriuretic peptide receptor 2
P3H1 prolyl 3-hydroxylase 1
PDE11A phosphodiesterase 11A
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PLS3 plastin 3
PMM2 phosphomannomutase 2
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PSAP prosaposin
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTH1R parathyroid hormone 1 receptor
PTRF polymerase I and transcript release factor
PYCR1 pyrroline-5-carboxylate reductase 1
SEC23A Sec23 homolog A (S. cerevisiae)
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SKI SKI proto-oncogene
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SNRPN small nuclear ribonucleoprotein polypeptide N
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TRPS1 trichorhinophalangeal syndrome I
UROS uroporphyrinogen III synthase