abnormal bone mineral density Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the quatitative measurment of mineral content of bone; BMD is used as an indicator of bone strength; bone mineral density is the ratio of bone mineral content to bone size (Mammalian Phenotype Ontology, MP_0010119)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010119
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Genes

258 gene mutations causing the abnormal bone mineral density phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ACKR1 atypical chemokine receptor 1 (Duffy blood group)
ACP5 acid phosphatase 5, tartrate resistant
ADIPOQ adiponectin, C1Q and collagen domain containing
AGER advanced glycosylation end product-specific receptor
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALOX5 arachidonate 5-lipoxygenase
ALPL alkaline phosphatase, liver/bone/kidney
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANXA1 annexin A1
APOBEC2 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2
APOE apolipoprotein E
ARHGAP1 Rho GTPase activating protein 1
ARSB arylsulfatase B
ASPA aspartoacylase
ATF4 activating transcription factor 4
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS5 Bardet-Biedl syndrome 5
BBX bobby sox homolog (Drosophila)
BDKRB2 bradykinin receptor B2
BMP3 bone morphogenetic protein 3
BMP5 bone morphogenetic protein 5
BMP7 bone morphogenetic protein 7
BRE brain and reproductive organ-expressed (TNFRSF1A modulator)
BRPF1 bromodomain and PHD finger containing, 1
CALCB calcitonin-related polypeptide beta
CALCR calcitonin receptor
CAMK4 calcium/calmodulin-dependent protein kinase IV
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CCR2 chemokine (C-C motif) receptor 2
CD14 CD14 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD68 CD68 molecule
CDO1 cysteine dioxygenase type 1
CHAD chondroadherin
CHSY1 chondroitin sulfate synthase 1
CISD2 CDGSH iron sulfur domain 2
CLCN7 chloride channel, voltage-sensitive 7
CLDN18 claudin 18
CLEC2D C-type lectin domain family 2, member D
CLSTN3 calsyntenin 3
CNOT3 CCR4-NOT transcription complex, subunit 3
CNR1 cannabinoid receptor 1 (brain)
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
CREB3L1 cAMP responsive element binding protein 3-like 1
CRH corticotropin releasing hormone
CSF1R colony stimulating factor 1 receptor
CTGF connective tissue growth factor
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNS cystinosin, lysosomal cystine transporter
CTSK cathepsin K
CUL7 cullin 7
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DCSTAMP dendrocyte expressed seven transmembrane protein
DDHD1 DDHD domain containing 1
DEF6 differentially expressed in FDCP 6 homolog (mouse)
DEGS1 delta(4)-desaturase, sphingolipid 1
DKK2 dickkopf WNT signaling pathway inhibitor 2
DLL1 delta-like 1 (Drosophila)
DNM3OS DNM3 opposite strand/antisense RNA
DOPEY2 dopey family member 2
DUOX2 dual oxidase 2
EBF2 early B-cell factor 2
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EGR1 early growth response 1
ELMOD1 ELMO/CED-12 domain containing 1
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
EWSR1 EWS RNA-binding protein 1
EYA3 EYA transcriptional coactivator and phosphatase 3
FAM20C family with sequence similarity 20, member C
FAM73B family with sequence similarity 73, member B
FAM83G family with sequence similarity 83, member G
FARSA phenylalanyl-tRNA synthetase, alpha subunit
FBLIM1 filamin binding LIM protein 1
FBN1 fibrillin 1
FBXO11 F-box protein 11
FGF2 fibroblast growth factor 2 (basic)
FGF23 fibroblast growth factor 23
FGFR3 fibroblast growth factor receptor 3
FHL2 four and a half LIM domains 2
FKBP11 FK506 binding protein 11, 19 kDa
FLNB filamin B, beta
FOSL2 FOS-like antigen 2
FOXN1 forkhead box N1
FRZB frizzled-related protein
FSHR follicle stimulating hormone receptor
FTO fat mass and obesity associated
FZD9 frizzled class receptor 9
GALC galactosylceramidase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GHR growth hormone receptor
GHRHR growth hormone releasing hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPRC6A G protein-coupled receptor, class C, group 6, member A
GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D
GRM1 glutamate receptor, metabotropic 1
HAT1 histone acetyltransferase 1
HDAC6 histone deacetylase 6
HELLS helicase, lymphoid-specific
HNF1A HNF1 homeobox A
HP1BP3 heterochromatin protein 1, binding protein 3
IAPP islet amyloid polypeptide
IBSP integrin-binding sialoprotein
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IDUA iduronidase, alpha-L-
IFNAR1 interferon (alpha, beta and omega) receptor 1
IFNB1 interferon, beta 1, fibroblast
IFT80 intraflagellar transport 80
IGF2 insulin-like growth factor 2
IGHM immunoglobulin heavy constant mu
IL20RA interleukin 20 receptor, alpha
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
INS insulin
IRF9 interferon regulatory factor 9
IRS1 insulin receptor substrate 1
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
JAK1 Janus kinase 1
JDP2 Jun dimerization protein 2
KCNJ16 potassium channel, inwardly rectifying subfamily J, member 16
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KITLG KIT ligand
KL klotho
KLF10 Kruppel-like factor 10
LAMC2 laminin, gamma 2
LECT1 leukocyte cell derived chemotaxin 1
LIFR leukemia inhibitory factor receptor alpha
LIN28A lin-28 homolog A (C. elegans)
LMNA lamin A/C
LRP5 low density lipoprotein receptor-related protein 5
LRP6 low density lipoprotein receptor-related protein 6
LRRK1 leucine-rich repeat kinase 1
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MECOM MDS1 and EVI1 complex locus
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGP matrix Gla protein
MLEC malectin
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MSTN myostatin
MSX2 msh homeobox 2
MYO1C myosin IC
MYO6 myosin VI
NBEAL2 neurobeachin-like 2
NBR1 neighbor of BRCA1 gene 1
NCOA1 nuclear receptor coactivator 1
NELL1 NEL-like 1 (chicken)
NLRP3 NLR family, pyrin domain containing 3
NOS1 nitric oxide synthase 1 (neuronal)
NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NR1H4 nuclear receptor subfamily 1, group H, member 4
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OSTM1 osteopetrosis associated transmembrane protein 1
PARL presenilin associated, rhomboid-like
PARVB parvin, beta
PEX2 peroxisomal biogenesis factor 2
PHEX phosphate regulating endopeptidase homolog, X-linked
PHOSPHO1 phosphatase, orphan 1
PIP4K2B phosphatidylinositol-5-phosphate 4-kinase, type II, beta
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLS3 plastin 3
POSTN periostin, osteoblast specific factor
PPIB peptidylprolyl isomerase B (cyclophilin B)
PRDM5 PR domain containing 5
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRLR prolactin receptor
PRMT3 protein arginine methyltransferase 3
PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2
PRSS50 protease, serine, 50
PTHLH parathyroid hormone-like hormone
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PYY peptide YY
PZP pregnancy-zone protein
QRFPR pyroglutamylated RFamide peptide receptor
RASSF2 Ras association (RalGDS/AF-6) domain family member 2
RGN regucalcin
RGS10 regulator of G-protein signaling 10
RNASE10 ribonuclease, RNase A family, 10 (non-active)
RNF169 ring finger protein 169
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SERINC3 serine incorporator 3
SFRP1 secreted frizzled-related protein 1
SFRP2 secreted frizzled-related protein 2
SH3BP2 SH3-domain binding protein 2
SH3PXD2B SH3 and PX domains 2B
SIGLEC15 sialic acid binding Ig-like lectin 15
SIRT6 sirtuin 6
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC30A5 solute carrier family 30 (zinc transporter), member 5
SLC38A10 solute carrier family 38, member 10
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC39A14 solute carrier family 39 (zinc transporter), member 14
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SMAD3 SMAD family member 3
SMN1 survival of motor neuron 1, telomeric
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SMS spermine synthase
SMURF1 SMAD specific E3 ubiquitin protein ligase 1
SNAP47 synaptosomal-associated protein, 47kDa
SOST sclerostin
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPNS2 spinster homolog 2 (Drosophila)
SPP1 secreted phosphoprotein 1
SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila)
TBC1D2B TBC1 domain family, member 2B
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
THBS2 thrombospondin 2
THRA thyroid hormone receptor, alpha
TLR4 toll-like receptor 4
TMEM64 transmembrane protein 64
TNF tumor necrosis factor
TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial)
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
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNIK TRAF2 and NCK interacting kinase
TP53 tumor protein p53
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRAM2 translocation associated membrane protein 2
TRPS1 trichorhinophalangeal syndrome I
TWSG1 twisted gastrulation BMP signaling modulator 1
TYROBP TYRO protein tyrosine kinase binding protein
UBE3B ubiquitin protein ligase E3B
UMOD uromodulin
USP1 ubiquitin specific peptidase 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WWOX WW domain containing oxidoreductase
XYLB xylulokinase homolog (H. influenzae)
ZCCHC14 zinc finger, CCHC domain containing 14
ZDHHC13 zinc finger, DHHC-type containing 13
ZMPSTE24 zinc metallopeptidase STE24