bone 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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143 genes associated with the disease bone density in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18
ADGRV1 adhesion G protein-coupled receptor V1
ADRB3 adrenoceptor beta 3
AHSG alpha-2-HS-glycoprotein
ALOX12 arachidonate 12-lipoxygenase
ALOX15 arachidonate 15-lipoxygenase
ALPL alkaline phosphatase, liver/bone/kidney
AMPH amphiphysin
APOE apolipoprotein E
AR androgen receptor
ARHGAP1 Rho GTPase activating protein 1
ARHGAP10 Rho GTPase activating protein 10
ARID1B AT rich interactive domain 1B (SWI1-like)
BGLAP bone gamma-carboxyglutamate (gla) protein
BMP4 bone morphogenetic protein 4
BPIFA3 BPI fold containing family A, member 3
C17ORF53 chromosome 17 open reading frame 53
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CALCA calcitonin-related polypeptide alpha
CALCR calcitonin receptor
CASR calcium-sensing receptor
CCDC158 coiled-coil domain containing 158
CCDC170 coiled-coil domain containing 170
CCDC81 coiled-coil domain containing 81
CCL2 chemokine (C-C motif) ligand 2
CCL8 chemokine (C-C motif) ligand 8
CCR2 chemokine (C-C motif) receptor 2
CCR3 chemokine (C-C motif) receptor 3
CD38 CD38 molecule
CEACAM1 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CKAP5 cytoskeleton associated protein 5
CLCN7 chloride channel, voltage-sensitive 7
CNOT6 CCR4-NOT transcription complex, subunit 6
CNTNAP2 contactin associated protein-like 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
CSMD1 CUB and Sushi multiple domains 1
CTNNBL1 catenin, beta like 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
DBP D site of albumin promoter (albumin D-box) binding protein
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DGKB diacylglycerol kinase, beta 90kDa
DLC1 DLC1 Rho GTPase activating protein
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DRD4 dopamine receptor D4
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ERBB4 erb-b2 receptor tyrosine kinase 4
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
ESRRA estrogen-related receptor alpha
FAM155A family with sequence similarity 155, member A
FAM3C family with sequence similarity 3, member C
FGF14 fibroblast growth factor 14
FOS FBJ murine osteosarcoma viral oncogene homolog
FSIP1 fibrous sheath interacting protein 1
GABPB1 GA binding protein transcription factor, beta subunit 1
GC group-specific component (vitamin D binding protein)
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GSTM1 glutathione S-transferase mu 1
HDAC5 histone deacetylase 5
HDAC9 histone deacetylase 9
IBSP integrin-binding sialoprotein
IFNAR1 interferon (alpha, beta and omega) receptor 1
IFNB1 interferon, beta 1, fibroblast
IGF1 insulin-like growth factor 1 (somatomedin C)
IL10 interleukin 10
IL1R1 interleukin 1 receptor, type I
IL21R interleukin 21 receptor
IL6 interleukin 6
INO80 INO80 complex subunit
IQSEC3 IQ motif and Sec7 domain 3
IRAK1 interleukin-1 receptor-associated kinase 1
JAG1 jagged 1
KL klotho
LDLR low density lipoprotein receptor
LEPR leptin receptor
LRP5 low density lipoprotein receptor-related protein 5
LRRC75A-AS1 LRRC75A antisense RNA 1
MCUR1 mitochondrial calcium uniporter regulator 1
MMP1 matrix metallopeptidase 1
MMP9 matrix metallopeptidase 9
MTMR2 myotubularin related protein 2
MTTP microsomal triglyceride transfer protein
NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2
NPPB natriuretic peptide B
NPY neuropeptide Y
NR5A2 nuclear receptor subfamily 5, group A, member 2
P4HA3 prolyl 4-hydroxylase, alpha polypeptide III
PARG poly (ADP-ribose) glycohydrolase
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PDLIM4 PDZ and LIM domain 4
PDZK1 PDZ domain containing 1
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
POMC proopiomelanocortin
PON1 paraoxonase 1
PON2 paraoxonase 2
PRDM6 PR domain containing 6
PRKCE protein kinase C, epsilon
PRR16 proline rich 16
PSMA2 proteasome (prosome, macropain) subunit, alpha type, 2
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
QPCT glutaminyl-peptide cyclotransferase
RASSF3 Ras association (RalGDS/AF-6) domain family member 3
RBMS3 RNA binding motif, single stranded interacting protein 3
RGS8 regulator of G-protein signaling 8
RHOBTB1 Rho-related BTB domain containing 1
RORA RAR-related orphan receptor A
RUNX2 runt-related transcription factor 2
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
SLC14A2 solute carrier family 14 (urea transporter), member 2
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SMAD2 SMAD family member 2
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SP7 Sp7 transcription factor
SPAG16 sperm associated antigen 16
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPP1 secreted phosphoprotein 1
SPTBN1 spectrin, beta, non-erythrocytic 1
SVEP1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1
TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1
TBC1D8 TBC1 domain family, member 8 (with GRAM domain)
TGFB1 transforming growth factor, beta 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGFBR3 transforming growth factor, beta receptor III
THRB thyroid hormone receptor, beta
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TRIM9 tripartite motif containing 9
TSPAN7 tetraspanin 7
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VIT vitrin
VLDLR very low density lipoprotein receptor
WIF1 WNT inhibitory factor 1
WLS wntless Wnt ligand secretion mediator
ZNF408 zinc finger protein 408