increased bone mineral density Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description increase in the quatitative measurment value of mineral content of bone; BMD is used as an indicator of bone strength used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size (Mammalian Phenotype Ontology, MP_0000062)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011001
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Genes

60 genes associated with the increased bone mineral density phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGXT alanine-glyoxylate aminotransferase
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANO5 anoctamin 5
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMP1 bone morphogenetic protein 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
CA2 carbonic anhydrase II
CLCN7 chloride channel, voltage-sensitive 7
CLIP2 CAP-GLY domain containing linker protein 2
CTSK cathepsin K
DHCR24 24-dehydrocholesterol reductase
DLX3 distal-less homeobox 3
DMP1 dentin matrix acidic phosphoprotein 1
EBP emopamil binding protein (sterol isomerase)
ELN elastin
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
FAM111A family with sequence similarity 111, member A
FAM20C family with sequence similarity 20, member C
FLNA filamin A, alpha
GBA glucosidase, beta, acid
GJA1 gap junction protein, alpha 1, 43kDa
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HSPG2 heparan sulfate proteoglycan 2
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
LBR lamin B receptor
LEMD3 LEM domain containing 3
LIMK1 LIM domain kinase 1
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LTBP3 latent transforming growth factor beta binding protein 3
MTAP methylthioadenosine phosphorylase
NAGLU N-acetylglucosaminidase, alpha
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OSTM1 osteopetrosis associated transmembrane protein 1
PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member 1
PTDSS1 phosphatidylserine synthase 1
PTH1R parathyroid hormone 1 receptor
RFC2 replication factor C (activator 1) 2, 40kDa
RUNX2 runt-related transcription factor 2
SCARB2 scavenger receptor class B, member 2
SETBP1 SET binding protein 1
SGSH N-sulfoglucosamine sulfohydrolase
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SNX10 sorting nexin 10
SOST sclerostin
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBXAS1 thromboxane A synthase 1 (platelet)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TGFB1 transforming growth factor, beta 1
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TRPS1 trichorhinophalangeal syndrome I
WRN Werner syndrome, RecQ helicase-like