abnormal bone mineral content Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area (Mammalian Phenotype Ontology, MP_0010122)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010122
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Genes

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

Symbol Name
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
ACP2 acid phosphatase 2, lysosomal
ADAM17 ADAM metallopeptidase domain 17
ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide
AGER advanced glycosylation end product-specific receptor
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AHCYL1 adenosylhomocysteinase-like 1
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ANKH ANKH inorganic pyrophosphate transport regulator
APOBEC2 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2
ARL4D ADP-ribosylation factor-like 4D
ASPA aspartoacylase
B9D1 B9 protein domain 1
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)
BGN biglycan
BRPF1 bromodomain and PHD finger containing, 1
BTRC beta-transducin repeat containing E3 ubiquitin protein ligase
CADM1 cell adhesion molecule 1
CBX6 chromobox homolog 6
CD14 CD14 molecule
CENPJ centromere protein J
CHSY1 chondroitin sulfate synthase 1
CISD2 CDGSH iron sulfur domain 2
CLDN18 claudin 18
CLSTN3 calsyntenin 3
COL10A1 collagen, type X, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL7A1 collagen, type VII, alpha 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DAAM2 dishevelled associated activator of morphogenesis 2
DDR2 discoidin domain receptor tyrosine kinase 2
DEGS1 delta(4)-desaturase, sphingolipid 1
DMXL2 Dmx-like 2
DNASE1L2 deoxyribonuclease I-like 2
DSG1 desmoglein 1
ELMOD1 ELMO/CED-12 domain containing 1
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPB41L5 erythrocyte membrane protein band 4.1 like 5
ESR1 estrogen receptor 1
FAM134C family with sequence similarity 134, member C
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
FGF2 fibroblast growth factor 2 (basic)
FGF23 fibroblast growth factor 23
FKBP11 FK506 binding protein 11, 19 kDa
FRZB frizzled-related protein
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GPR65 G protein-coupled receptor 65
GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D
GRM1 glutamate receptor, metabotropic 1
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IL10 interleukin 10
IL6ST interleukin 6 signal transducer
IRS1 insulin receptor substrate 1
KCNJ16 potassium channel, inwardly rectifying subfamily J, member 16
KITLG KIT ligand
KLF10 Kruppel-like factor 10
KLKB1 kallikrein B, plasma (Fletcher factor) 1
L3MBTL2 l(3)mbt-like 2 (Drosophila)
LAMC2 laminin, gamma 2
LMNA lamin A/C
LRP2 low density lipoprotein receptor-related protein 2
MAPKAPK2 mitogen-activated protein kinase-activated protein kinase 2
MAPKBP1 mitogen-activated protein kinase binding protein 1
MCPH1 microcephalin 1
MECOM MDS1 and EVI1 complex locus
METTL24 methyltransferase like 24
MRAP2 melanocortin 2 receptor accessory protein 2
MSTN myostatin
MTSS1 metastasis suppressor 1
MYO7A myosin VIIA
MYSM1 Myb-like, SWIRM and MPN domains 1
NBEAL2 neurobeachin-like 2
NOS1 nitric oxide synthase 1 (neuronal)
NPTN neuroplastin
NR1H4 nuclear receptor subfamily 1, group H, member 4
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PDYN prodynorphin
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF20 PHD finger protein 20
PIAS2 protein inhibitor of activated STAT, 2
PLS3 plastin 3
PRDM4 PR domain containing 4
PRDM5 PR domain containing 5
PRMT3 protein arginine methyltransferase 3
PRPSAP2 phosphoribosyl pyrophosphate synthetase-associated protein 2
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTPN3 protein tyrosine phosphatase, non-receptor type 3
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PYY peptide YY
RNF7 ring finger protein 7
SCN3B sodium channel, voltage gated, type III beta subunit
SECISBP2 SECIS binding protein 2
SERINC3 serine incorporator 3
SETDB1 SET domain, bifurcated 1
SFRP1 secreted frizzled-related protein 1
SFRP2 secreted frizzled-related protein 2
SIGLEC15 sialic acid binding Ig-like lectin 15
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
SLC38A10 solute carrier family 38, member 10
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SMN1 survival of motor neuron 1, telomeric
SMS spermine synthase
SNAP47 synaptosomal-associated protein, 47kDa
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPNS2 spinster homolog 2 (Drosophila)
SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
THRA thyroid hormone receptor, alpha
TLR4 toll-like receptor 4
TMEM189 transmembrane protein 189
TMEM64 transmembrane protein 64
TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial)
TNIK TRAF2 and NCK interacting kinase
TRAM2 translocation associated membrane protein 2
TTLL4 tubulin tyrosine ligase-like family member 4
TWSG1 twisted gastrulation BMP signaling modulator 1
TYROBP TYRO protein tyrosine kinase binding protein
UBE3B ubiquitin protein ligase E3B
UMOD uromodulin
USH1C Usher syndrome 1C (autosomal recessive, severe)
VANGL2 VANGL planar cell polarity protein 2
WDR37 WD repeat domain 37
XYLB xylulokinase homolog (H. influenzae)
ZCCHC14 zinc finger, CCHC domain containing 14