reduced bone mineral density Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. (Human Phenotype Ontology, HP_0004349)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004349
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL2 ADAMTS-like 2
AIP aryl hydrocarbon receptor interacting protein
AKR1D1 aldo-keto reductase family 1, member D1
ALPL alkaline phosphatase, liver/bone/kidney
ANO5 anoctamin 5
ANOS1 anosmin 1
ANTXR2 anthrax toxin receptor 2
AR androgen receptor
ARMC5 armadillo repeat containing 5
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
AVP arginine vasopressin
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAAT bile acid CoA:amino acid N-acyltransferase
BANF1 barrier to autointegration factor 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMP1 bone morphogenetic protein 1
BMP15 bone morphogenetic protein 15
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CA2 carbonic anhydrase II
CANT1 calcium activated nucleotidase 1
CASR calcium-sensing receptor
CBS cystathionine-beta-synthase
CDKL5 cyclin-dependent kinase-like 5
CHD7 chromodomain helicase DNA binding protein 7
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCN5 chloride channel, voltage-sensitive 5
CLCN7 chloride channel, voltage-sensitive 7
CLIP2 CAP-GLY domain containing linker protein 2
COG1 component of oligomeric golgi complex 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL7A1 collagen, type VII, alpha 1
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
CRTAP cartilage associated protein
CTC1 CTS telomere maintenance complex component 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTNS cystinosin, lysosomal cystine transporter
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DCHS1 dachsous cadherin-related 1
DKC1 dyskeratosis congenita 1, dyskerin
DKK1 dickkopf WNT signaling pathway inhibitor 1
DMP1 dentin matrix acidic phosphoprotein 1
DUSP6 dual specificity phosphatase 6
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELN elastin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ESR1 estrogen receptor 1
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM134B family with sequence similarity 134, member B
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FAT4 FAT atypical cadherin 4
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FEZF1 FEZ family zinc finger 1
FGF17 fibroblast growth factor 17
FGF23 fibroblast growth factor 23
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FKBP10 FK506 binding protein 10, 65 kDa
FKBP14 FK506 binding protein 14, 22 kDa
FLRT3 fibronectin leucine rich transmembrane protein 3
FOXG1 forkhead box G1
FSHR follicle stimulating hormone receptor
G6PC glucose-6-phosphatase, catalytic subunit
GALNS galactosamine (N-acetyl)-6-sulfatase
GALT galactose-1-phosphate uridylyltransferase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GBA glucosidase, beta, acid
GK glycerol kinase
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAS GNAS complex locus
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GORAB golgin, RAB6-interacting
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HAMP hepcidin antimicrobial peptide
HBB hemoglobin, beta
HESX1 HESX homeobox 1
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HGD homogentisate 1,2-dioxygenase
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
HSPG2 heparan sulfate proteoglycan 2
IFITM5 interferon induced transmembrane protein 5
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
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
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KIF1A kinesin family member 1A
KISS1R KISS1 receptor
KRAS Kirsten rat sarcoma viral oncogene homolog
LBR lamin B receptor
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LRP5 low density lipoprotein receptor-related protein 5
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MALT1 MALT1 paracaspase
MECP2 methyl CpG binding protein 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MMP1 matrix metallopeptidase 1
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MTAP methylthioadenosine phosphorylase
NAGA N-acetylgalactosaminidase, alpha-
NDN necdin, melanoma antigen (MAGE) family member
NELFA negative elongation factor complex member A
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
NOTCH2 notch 2
NPR2 natriuretic peptide receptor 2
NR5A1 nuclear receptor subfamily 5, group A, member 1
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NTNG1 netrin G1
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
P3H1 prolyl 3-hydroxylase 1
PALB2 partner and localizer of BRCA2
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDE11A phosphodiesterase 11A
PDE8B phosphodiesterase 8B
PEPD peptidase D
PEX12 peroxisomal biogenesis factor 12
PHEX phosphate regulating endopeptidase homolog, X-linked
PHGDH phosphoglycerate dehydrogenase
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PLS3 plastin 3
PMM2 phosphomannomutase 2
POF1B premature ovarian failure, 1B
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
PRDM5 PR domain containing 5
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PSAP prosaposin
PSAT1 phosphoserine aminotransferase 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSMC3IP PSMC3 interacting protein
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTRF polymerase I and transcript release factor
PYCR1 pyrroline-5-carboxylate reductase 1
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAD51C RAD51 paralog C
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RIN2 Ras and Rab interactor 2
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RTEL1 regulator of telomere elongation helicase 1
RUNX2 runt-related transcription factor 2
SBDS Shwachman-Bodian-Diamond syndrome
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
SCN9A sodium channel, voltage gated, type IX alpha subunit
SEC23A Sec23 homolog A (S. cerevisiae)
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
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
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
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
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD3 SMAD family member 3
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMS spermine synthase
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX10 sorting nexin 10
SOX10 SRY (sex determining region Y)-box 10
SP7 Sp7 transcription factor
SPRY4 sprouty homolog 4 (Drosophila)
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TACR3 tachykinin receptor 3
TBL2 transducin (beta)-like 2
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TJP2 tight junction protein 2
TMEM165 transmembrane protein 165
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TREM2 triggering receptor expressed on myeloid cells 2
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TYR tyrosinase
TYROBP TYRO protein tyrosine kinase binding protein
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
WDR11 WD repeat domain 11
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WISP3 WNT1 inducible signaling pathway protein 3
WNK1 WNK lysine deficient protein kinase 1
WNT1 wingless-type MMTV integration site family, member 1
WNT3A wingless-type MMTV integration site family, member 3A
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like
ZBTB20 zinc finger and BTB domain containing 20
ZMPSTE24 zinc metallopeptidase STE24
ZNF469 zinc finger protein 469