abnormal osteoclast cell number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description deviation from the average number of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue (Mammalian Phenotype Ontology, MP_0004983)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004983
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Genes

93 gene mutations causing the abnormal osteoclast cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AGER advanced glycosylation end product-specific receptor
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
ANKRD11 ankyrin repeat domain 11
BGLAP bone gamma-carboxyglutamate (gla) protein
C3 complement component 3
C3AR1 complement component 3a receptor 1
C5AR1 complement component 5a receptor 1
CAMK4 calcium/calmodulin-dependent protein kinase IV
CARTPT CART prepropeptide
CCL13 chemokine (C-C motif) ligand 13
CCR2 chemokine (C-C motif) receptor 2
CD47 CD47 molecule
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CLCN7 chloride channel, voltage-sensitive 7
CLDN18 claudin 18
CLEC2D C-type lectin domain family 2, member D
CNOT3 CCR4-NOT transcription complex, subunit 3
COL10A1 collagen, type X, alpha 1
CSF1 colony stimulating factor 1 (macrophage)
CTSK cathepsin K
CTSV cathepsin V
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DKK2 dickkopf WNT signaling pathway inhibitor 2
EBF1 early B-cell factor 1
EGR1 early growth response 1
ESR1 estrogen receptor 1
ESRRA estrogen-related receptor alpha
FARP2 FERM, RhoGEF and pleckstrin domain protein 2
FBLIM1 filamin binding LIM protein 1
FGFR3 fibroblast growth factor receptor 3
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSL2 FOS-like antigen 2
GAB2 GRB2-associated binding protein 2
GATA1 GATA binding protein 1 (globin transcription factor 1)
GGT1 gamma-glutamyltransferase 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPR55 G protein-coupled receptor 55
HCST hematopoietic cell signal transducer
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3
HSPG2 heparan sulfate proteoglycan 2
IAPP islet amyloid polypeptide
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IGHM immunoglobulin heavy constant mu
IL6ST interleukin 6 signal transducer
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
IRAK3 interleukin-1 receptor-associated kinase 3
IRS1 insulin receptor substrate 1
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KL klotho
LIF leukemia inhibitory factor
LIFR leukemia inhibitory factor receptor alpha
LIMD1 LIM domains containing 1
LRP5 low density lipoprotein receptor-related protein 5
LRRK1 leucine-rich repeat kinase 1
MC4R melanocortin 4 receptor
MITF microphthalmia-associated transcription factor
MMP2 matrix metallopeptidase 2
MSX2 msh homeobox 2
NCOR2 nuclear receptor corepressor 2
NFE2 nuclear factor, erythroid 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NLRP3 NLR family, pyrin domain containing 3
NOS2 nitric oxide synthase 2, inducible
NPY2R neuropeptide Y receptor Y2
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
PDK4 pyruvate dehydrogenase kinase, isozyme 4
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
POSTN periostin, osteoblast specific factor
PTH parathyroid hormone
PTHLH parathyroid hormone-like hormone
RASSF2 Ras association (RalGDS/AF-6) domain family member 2
RGS10 regulator of G-protein signaling 10
SGPL1 sphingosine-1-phosphate lyase 1
SH3BP2 SH3-domain binding protein 2
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPP1 secreted phosphoprotein 1
SQSTM1 sequestosome 1
STAT1 signal transducer and activator of transcription 1, 91kDa
SUCO SUN domain containing ossification factor
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TMEM64 transmembrane protein 64
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
TOB2 transducer of ERBB2, 2
TRPV5 transient receptor potential cation channel, subfamily V, member 5
VCP valosin containing protein
WDR1 WD repeat domain 1