abnormality of bone mineral density Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. (Human Phenotype Ontology, HP_0004348)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004348
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Genes

328 genes associated with the abnormality of 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
AGXT alanine-glyoxylate aminotransferase
AIP aryl hydrocarbon receptor interacting protein
AKR1D1 aldo-keto reductase family 1, member D1
ALPL alkaline phosphatase, liver/bone/kidney
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANO5 anoctamin 5
ANOS1 anosmin 1
ANTXR2 anthrax toxin receptor 2
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
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
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
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
BMS1 BMS1 ribosome biogenesis factor
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
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
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
COL10A1 collagen, type X, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
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
CTNND2 catenin (cadherin-associated protein), delta 2
CTNS cystinosin, lysosomal cystine transporter
CTSK cathepsin K
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
DHCR24 24-dehydrocholesterol reductase
DKC1 dyskeratosis congenita 1, dyskerin
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLX3 distal-less homeobox 3
DMP1 dentin matrix acidic phosphoprotein 1
DUSP6 dual specificity phosphatase 6
EBP emopamil binding protein (sterol isomerase)
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
ERCC8 excision repair cross-complementation group 8
ESR1 estrogen receptor 1
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM111A family with sequence similarity 111, member A
FAM134B family with sequence similarity 134, member B
FAM20C family with sequence similarity 20, member C
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
FLNA filamin A, alpha
FLNB filamin B, beta
FLRT3 fibronectin leucine rich transmembrane protein 3
FNBP4 formin binding protein 4
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
GJA1 gap junction protein, alpha 1, 43kDa
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
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
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)
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL17RD interleukin 17 receptor D
INVS inversin
IQCB1 IQ motif containing B1
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
KIF22 kinesin family member 22
KISS1R KISS1 receptor
KRAS Kirsten rat sarcoma viral oncogene homolog
LBR lamin B receptor
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LPIN2 lipin 2
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
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MALT1 MALT1 paracaspase
MBTPS2 membrane-bound transcription factor peptidase, site 2
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-
NAGLU N-acetylglucosaminidase, 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
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NPR2 natriuretic peptide receptor 2
NR5A1 nuclear receptor subfamily 5, group A, member 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NTNG1 netrin G1
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OSTM1 osteopetrosis associated transmembrane protein 1
P3H1 prolyl 3-hydroxylase 1
PALB2 partner and localizer of BRCA2
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCNT pericentrin
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
PLEKHM1 pleckstrin homology domain containing, family M (with RUN domain) member 1
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
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
PORCN porcupine homolog (Drosophila)
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
PTDSS1 phosphatidylserine synthase 1
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
RBBP8 retinoblastoma binding protein 8
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RIN2 Ras and Rab interactor 2
RMRP RNA component of mitochondrial RNA processing endoribonuclease
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
SDCCAG8 serologically defined colon cancer antigen 8
SEC23A Sec23 homolog A (S. cerevisiae)
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SGSH N-sulfoglucosamine sulfohydrolase
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
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
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
SMOC1 SPARC related modular calcium binding 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMS spermine synthase
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX10 sorting nexin 10
SOST sclerostin
SOX10 SRY (sex determining region Y)-box 10
SOX9 SRY (sex determining region Y)-box 9
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
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
TCOF1 Treacher Collins-Franceschetti syndrome 1
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TGFB1 transforming growth factor, beta 1
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
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TREM2 triggering receptor expressed on myeloid cells 2
TRIP11 thyroid hormone receptor interactor 11
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TRPS1 trichorhinophalangeal syndrome I
TRPV3 transient receptor potential cation channel, subfamily V, member 3
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