bone mineral density Gene Set

Dataset GAD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS. (Experimental Factor Ontology, EFO_0003923)
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Genes

410 genes associated with the disease bone mineral density in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
ACVR2B activin A receptor, type IIB
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18
ADCY10 adenylate cyclase 10 (soluble)
ADIPOQ adiponectin, C1Q and collagen domain containing
ADIPOR1 adiponectin receptor 1
ADIPOR2 adiponectin receptor 2
ADRB3 adrenoceptor beta 3
AHSG alpha-2-HS-glycoprotein
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALOX15 arachidonate 15-lipoxygenase
ALOX5 arachidonate 5-lipoxygenase
ALPL alkaline phosphatase, liver/bone/kidney
APC adenomatous polyposis coli
APOE apolipoprotein E
AQP9 aquaporin 9
AR androgen receptor
ARRB1 arrestin, beta 1
ARRB2 arrestin, beta 2
ATF2 activating transcription factor 2
ATF4 activating transcription factor 4
AXIN1 axin 1
AXIN2 axin 2
BAX BCL2-associated X protein
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BGLAP bone gamma-carboxyglutamate (gla) protein
BGN biglycan
BMP2 bone morphogenetic protein 2
BMP2K BMP2 inducible kinase
BMP3 bone morphogenetic protein 3
BMP4 bone morphogenetic protein 4
BMP7 bone morphogenetic protein 7
BMPR1A bone morphogenetic protein receptor, type IA
BMPR1B bone morphogenetic protein receptor, type IB
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
CALCA calcitonin-related polypeptide alpha
CALCR calcitonin receptor
CALM2 calmodulin 2 (phosphorylase kinase, delta)
CASP2 caspase 2, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CBFB core-binding factor, beta subunit
CCND1 cyclin D1
CCR2 chemokine (C-C motif) receptor 2
CDK6 cyclin-dependent kinase 6
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CER1 cerberus 1, DAN family BMP antagonist
CHRD chordin
CHRDL2 chordin-like 2
CHUK conserved helix-loop-helix ubiquitous kinase
CLCN7 chloride channel, voltage-sensitive 7
CNTF ciliary neurotrophic factor
CNTFR ciliary neurotrophic factor receptor
CNTNAP2 contactin associated protein-like 2
COL1A1 collagen, type I, alpha 1
COMT catechol-O-methyltransferase
CRH corticotropin releasing hormone
CRHBP corticotropin releasing hormone binding protein
CRHR1 corticotropin releasing hormone receptor 1
CRHR2 corticotropin releasing hormone receptor 2
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
CSF3 colony stimulating factor 3 (granulocyte)
CSF3R colony stimulating factor 3 receptor (granulocyte)
CTGF connective tissue growth factor
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNNBL1 catenin, beta like 1
CTSK cathepsin K
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
DCAF13 DDB1 and CUL4 associated factor 13
DCN decorin
DKK1 dickkopf WNT signaling pathway inhibitor 1
DKK2 dickkopf WNT signaling pathway inhibitor 2
DKK3 dickkopf WNT signaling pathway inhibitor 3
DKK4 dickkopf WNT signaling pathway inhibitor 4
DLK1 delta-like 1 homolog (Drosophila)
DLL3 delta-like 3 (Drosophila)
DLX1 distal-less homeobox 1
DLX2 distal-less homeobox 2
DLX3 distal-less homeobox 3
DLX5 distal-less homeobox 5
DLX6 distal-less homeobox 6
DMP1 dentin matrix acidic phosphoprotein 1
DNTTIP2 deoxynucleotidyltransferase, terminal, interacting protein 2
DVL1 dishevelled segment polarity protein 1
DVL2 dishevelled segment polarity protein 2
E2F1 E2F transcription factor 1
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EGR2 early growth response 2
EGR3 early growth response 3
EN1 engrailed homeobox 1
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
ESRRA estrogen-related receptor alpha
ETS2 v-ets avian erythroblastosis virus E26 oncogene homolog 2
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FADD Fas (TNFRSF6)-associated via death domain
FBXO32 F-box protein 32
FGF1 fibroblast growth factor 1 (acidic)
FGF18 fibroblast growth factor 18
FGF2 fibroblast growth factor 2 (basic)
FGF23 fibroblast growth factor 23
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLT1 fms-related tyrosine kinase 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSB FBJ murine osteosarcoma viral oncogene homolog B
FOSL1 FOS-like antigen 1
FOXC2 forkhead box C2
FRAT2 frequently rearranged in advanced T-cell lymphomas 2
FRZB frizzled-related protein
FSHR follicle stimulating hormone receptor
FST follistatin
FZD1 frizzled class receptor 1
FZD4 frizzled class receptor 4
FZD5 frizzled class receptor 5
FZD6 frizzled class receptor 6
FZD7 frizzled class receptor 7
FZD9 frizzled class receptor 9
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GC group-specific component (vitamin D binding protein)
GDF5 growth differentiation factor 5
GH1 growth hormone 1
GHR growth hormone receptor
GHRH growth hormone releasing hormone
GHRHR growth hormone releasing hormone receptor
GHRL ghrelin/obestatin prepropeptide
GHSR growth hormone secretagogue receptor
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNRH2 gonadotropin-releasing hormone 2
GNRHR gonadotropin-releasing hormone receptor
GNRHR2 gonadotropin-releasing hormone (type 2) receptor 2, pseudogene
GPNMB glycoprotein (transmembrane) nmb
GREM1 gremlin 1, DAN family BMP antagonist
GSK3B glycogen synthase kinase 3 beta
HDAC3 histone deacetylase 3
HES1 hes family bHLH transcription factor 1
HEY1 hes-related family bHLH transcription factor with YRPW motif 1
HMGA2 high mobility group AT-hook 2
HNF1A HNF1 homeobox A
HOXA10 homeobox A10
HOXA11 homeobox A11
HOXA13 homeobox A13
HOXA2 homeobox A2
HOXA3 homeobox A3
HOXA4 homeobox A4
HOXA5 homeobox A5
HOXA6 homeobox A6
HOXA7 homeobox A7
HOXA9 homeobox A9
HOXA@ homeobox A cluster
HOXD1 homeobox D1
HOXD10 homeobox D10
HOXD11 homeobox D11
HOXD12 homeobox D12
HOXD13 homeobox D13
HOXD3 homeobox D3
HOXD4 homeobox D4
HOXD8 homeobox D8
HOXD9 homeobox D9
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSD17B1 hydroxysteroid (17-beta) dehydrogenase 1
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
IBSP integrin-binding sialoprotein
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein
IDE insulin-degrading enzyme
IFNAR1 interferon (alpha, beta and omega) receptor 1
IFNAR2 interferon (alpha, beta and omega) receptor 2
IFNB1 interferon, beta 1, fibroblast
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGF2R insulin-like growth factor 2 receptor
IGFALS insulin-like growth factor binding protein, acid labile subunit
IGFBP1 insulin-like growth factor binding protein 1
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
IGFBP3 insulin-like growth factor binding protein 3
IGFBP4 insulin-like growth factor binding protein 4
IGFBP5 insulin-like growth factor binding protein 5
IGFBP6 insulin-like growth factor binding protein 6
IHH indian hedgehog
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL15 interleukin 15
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1R2 interleukin 1 receptor, type II
IL1RN interleukin 1 receptor antagonist
IL21R interleukin 21 receptor
IL6 interleukin 6
IL6R interleukin 6 receptor
IL6ST interleukin 6 signal transducer
IRAK1 interleukin-1 receptor-associated kinase 1
IRAK2 interleukin-1 receptor-associated kinase 2
IRAK3 interleukin-1 receptor-associated kinase 3
IRS1 insulin receptor substrate 1
ITGA1 integrin, alpha 1
JAG1 jagged 1
KDR kinase insert domain receptor
KISS1R KISS1 receptor
KL klotho
KLF10 Kruppel-like factor 10
KREMEN1 kringle containing transmembrane protein 1
LCT lactase
LEF1 lymphoid enhancer-binding factor 1
LEP leptin
LEPR leptin receptor
LHB luteinizing hormone beta polypeptide
LHCGR luteinizing hormone/choriogonadotropin receptor
LIF leukemia inhibitory factor
LIFR leukemia inhibitory factor receptor alpha
LRP5 low density lipoprotein receptor-related protein 5
LRP6 low density lipoprotein receptor-related protein 6
LTA lymphotoxin alpha
LTBP1 latent transforming growth factor beta binding protein 1
LTBP2 latent transforming growth factor beta binding protein 2
LTBP3 latent transforming growth factor beta binding protein 3
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MAP3K14 mitogen-activated protein kinase kinase kinase 14
MAPK14 mitogen-activated protein kinase 14
MAPK3 mitogen-activated protein kinase 3
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MCHR1 melanin-concentrating hormone receptor 1
MEF2A myocyte enhancer factor 2A
MEF2B myocyte enhancer factor 2B
MEF2C myocyte enhancer factor 2C
MEF2D myocyte enhancer factor 2D
MEPE matrix extracellular phosphoglycoprotein
MGP matrix Gla protein
MMP1 matrix metallopeptidase 1
MMP9 matrix metallopeptidase 9
MSTN myostatin
MSX1 msh homeobox 1
MSX2 msh homeobox 2
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYD88 myeloid differentiation primary response 88
MYF5 myogenic factor 5
MYF6 myogenic factor 6 (herculin)
MYOD1 myogenic differentiation 1
MYOG myogenin (myogenic factor 4)
NCOA1 nuclear receptor coactivator 1
NCOA2 nuclear receptor coactivator 2
NCOA3 nuclear receptor coactivator 3
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NFKBIB nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta
NKX3-1 NK3 homeobox 1
NOG noggin
NOTCH1 notch 1
NOTCH2 notch 2
NPY neuropeptide Y
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR4A2 nuclear receptor subfamily 4, group A, member 2
NRF1 nuclear respiratory factor 1
NTF3 neurotrophin 3
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OGN osteoglycin
OSCAR osteoclast associated, immunoglobulin-like receptor
OSTF1 osteoclast stimulating factor 1
OSTM1 osteopetrosis associated transmembrane protein 1
OSTN osteocrin
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PAX1 paired box 1
PAX3 paired box 3
PAX7 paired box 7
PAX9 paired box 9
PDLIM4 PDZ and LIM domain 4
PHOSPHO1 phosphatase, orphan 1
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
PIR pirin (iron-binding nuclear protein)
POMC proopiomelanocortin
POSTN periostin, osteoblast specific factor
POU1F1 POU class 1 homeobox 1
PPARA peroxisome proliferator-activated receptor alpha
PPARD peroxisome proliferator-activated receptor delta
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP3R1 protein phosphatase 3, regulatory subunit B, alpha
PRDM2 PR domain containing 2, with ZNF domain
PROP1 PROP paired-like homeobox 1
PTCH1 patched 1
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PTN pleiotrophin
QPCT glutaminyl-peptide cyclotransferase
RBL1 retinoblastoma-like 1
RBL2 retinoblastoma-like 2
RBMS3 RNA binding motif, single stranded interacting protein 3
RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX1 runt-related transcription factor 1
RUNX2 runt-related transcription factor 2
RXRA retinoid X receptor, alpha
RXRB retinoid X receptor, beta
RXRG retinoid X receptor, gamma
SFRP1 secreted frizzled-related protein 1
SFRP2 secreted frizzled-related protein 2
SFRP4 secreted frizzled-related protein 4
SHBG sex hormone-binding globulin
SHH sonic hedgehog
SHOX2 short stature homeobox 2
SMAD1 SMAD family member 1
SMAD2 SMAD family member 2
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMO smoothened, frizzled class receptor
SOST sclerostin
SOX4 SRY (sex determining region Y)-box 4
SOX5 SRY (sex determining region Y)-box 5
SOX6 SRY (sex determining region Y)-box 6
SOX9 SRY (sex determining region Y)-box 9
SP7 Sp7 transcription factor
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPP1 secreted phosphoprotein 1
SRC SRC proto-oncogene, non-receptor tyrosine kinase
STAR steroidogenic acute regulatory protein
STAT1 signal transducer and activator of transcription 1, 91kDa
STS steroid sulfatase (microsomal), isozyme S
TANK TRAF family member-associated NFKB activator
TBX2 T-box 2
TBX3 T-box 3
TBX4 T-box 4
TCF4 transcription factor 4
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGFBR3 transforming growth factor, beta receptor III
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFAIP3 tumor necrosis factor, alpha-induced protein 3
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TOB1 transducer of ERBB2, 1
TRADD TNFRSF1A-associated via death domain
TRAF1 TNF receptor-associated factor 1
TRAF2 TNF receptor-associated factor 2
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRH thyrotropin-releasing hormone
TRPV5 transient receptor potential cation channel, subfamily V, member 5
TSHR thyroid stimulating hormone receptor
TWIST1 twist family bHLH transcription factor 1
TWIST2 twist family bHLH transcription factor 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
WDR5 WD repeat domain 5
WIF1 WNT inhibitory factor 1
WISP1 WNT1 inducible signaling pathway protein 1
WISP2 WNT1 inducible signaling pathway protein 2
WISP3 WNT1 inducible signaling pathway protein 3
WNT1 wingless-type MMTV integration site family, member 1
WNT10A wingless-type MMTV integration site family, member 10A
WNT10B wingless-type MMTV integration site family, member 10B
WNT11 wingless-type MMTV integration site family, member 11
WNT3A wingless-type MMTV integration site family, member 3A
WNT4 wingless-type MMTV integration site family, member 4
WNT5A wingless-type MMTV integration site family, member 5A
WNT5B wingless-type MMTV integration site family, member 5B
WNT7A wingless-type MMTV integration site family, member 7A
WNT9A wingless-type MMTV integration site family, member 9A
ZBTB7B zinc finger and BTB domain containing 7B