abnormal bone mineralization Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description defect in the process by which minerals are deposited into bone (Mammalian Phenotype Ontology, MP_0002896)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002896
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Genes

118 gene mutations causing the abnormal bone mineralization phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
ACP2 acid phosphatase 2, lysosomal
ACP5 acid phosphatase 5, tartrate resistant
ALPL alkaline phosphatase, liver/bone/kidney
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANO6 anoctamin 6
ATF4 activating transcription factor 4
C1ORF112 chromosome 1 open reading frame 112
CALCB calcitonin-related polypeptide beta
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CD68 CD68 molecule
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CHUK conserved helix-loop-helix ubiquitous kinase
CISD2 CDGSH iron sulfur domain 2
CNOT3 CCR4-NOT transcription complex, subunit 3
COL11A1 collagen, type XI, alpha 1
COL12A1 collagen, type XII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
CREB3L1 cAMP responsive element binding protein 3-like 1
CRH corticotropin releasing hormone
CRTAP cartilage associated protein
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CST5 cystatin D
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DDR1 discoidin domain receptor tyrosine kinase 1
DKK2 dickkopf WNT signaling pathway inhibitor 2
DLX5 distal-less homeobox 5
EBF1 early B-cell factor 1
EGR2 early growth response 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
FAM117B family with sequence similarity 117, member B
FGF23 fibroblast growth factor 23
FLNB filamin B, beta
FZD9 frizzled class receptor 9
GC group-specific component (vitamin D binding protein)
GLCE glucuronic acid epimerase
GLI3 GLI family zinc finger 3
GPRC6A G protein-coupled receptor, class C, group 6, member A
HOXC10 homeobox C10
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HSPG2 heparan sulfate proteoglycan 2
IBSP integrin-binding sialoprotein
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
IHH indian hedgehog
IL10 interleukin 10
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa
IRS1 insulin receptor substrate 1
ISG15 ISG15 ubiquitin-like modifier
KCNJ16 potassium channel, inwardly rectifying subfamily J, member 16
LMNA lamin A/C
LRP5 low density lipoprotein receptor-related protein 5
LRRK1 leucine-rich repeat kinase 1
MECOM MDS1 and EVI1 complex locus
MEPE matrix extracellular phosphoglycoprotein
MIA3 melanoma inhibitory activity family, member 3
MMP14 matrix metallopeptidase 14 (membrane-inserted)
NABP2 nucleic acid binding protein 2
NACA nascent polypeptide-associated complex alpha subunit
NELL1 NEL-like 1 (chicken)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NOG noggin
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPY2R neuropeptide Y receptor Y2
PBX3 pre-B-cell leukemia homeobox 3
PEX7 peroxisomal biogenesis factor 7
PHEX phosphate regulating endopeptidase homolog, X-linked
PHOSPHO1 phosphatase, orphan 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKDCC protein kinase domain containing, cytoplasmic
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRLR prolactin receptor
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
PYY peptide YY
RASSF2 Ras association (RalGDS/AF-6) domain family member 2
RGN regucalcin
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RNF169 ring finger protein 169
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SATB2 SATB homeobox 2
SBNO2 strawberry notch homolog 2 (Drosophila)
SIK3 SIK family kinase 3
SIN3B SIN3 transcription regulator family member B
SLC20A1 solute carrier family 20 (phosphate transporter), member 1
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SOST sclerostin
SOX11 SRY (sex determining region Y)-box 11
SOX5 SRY (sex determining region Y)-box 5
SOX9 SRY (sex determining region Y)-box 9
SP3 Sp3 transcription factor
SP7 Sp7 transcription factor
SPP1 secreted phosphoprotein 1
SQSTM1 sequestosome 1
STAG1 stromal antigen 1
TBX22 T-box 22
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TNFAIP1 tumor necrosis factor, alpha-induced protein 1 (endothelial)
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNNT3 troponin T type 3 (skeletal, fast)
TRIP11 thyroid hormone receptor interactor 11
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TTLL4 tubulin tyrosine ligase-like family member 4
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
XYLB xylulokinase homolog (H. influenzae)
ZNF202 zinc finger protein 202