abnormal bone resorption Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the process of degrading the organic and inorganic phases of bone by absorption, usually by the abnormal function or by absence of osteoclasts (Mammalian Phenotype Ontology, MP_0004945)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004945
Similar Terms
Downloads & Tools


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

Symbol Name
ADRB2 adrenoceptor beta 2, surface
AGER advanced glycosylation end product-specific receptor
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATP6V0D2 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2
CD47 CD47 molecule
CD68 CD68 molecule
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CLCN7 chloride channel, voltage-sensitive 7
CLDN18 claudin 18
CNOT3 CCR4-NOT transcription complex, subunit 3
COL1A1 collagen, type I, alpha 1
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CTSK cathepsin K
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
ESRRA estrogen-related receptor alpha
FARP2 FERM, RhoGEF and pleckstrin domain protein 2
FOSL2 FOS-like antigen 2
GAB2 GRB2-associated binding protein 2
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPR65 G protein-coupled receptor 65
GSK3B glycogen synthase kinase 3 beta
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3
IAPP islet amyloid polypeptide
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL20RA interleukin 20 receptor, alpha
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa
JAK1 Janus kinase 1
LECT1 leukocyte cell derived chemotaxin 1
LIF leukemia inhibitory factor
LRP5 low density lipoprotein receptor-related protein 5
LRRK1 leucine-rich repeat kinase 1
NCOA1 nuclear receptor coactivator 1
NLRP3 NLR family, pyrin domain containing 3
OSTM1 osteopetrosis associated transmembrane protein 1
PHEX phosphate regulating endopeptidase homolog, X-linked
SIGLEC15 sialic acid binding Ig-like lectin 15
SPP1 secreted phosphoprotein 1
SRC SRC proto-oncogene, non-receptor tyrosine kinase
STAT1 signal transducer and activator of transcription 1, 91kDa
SYK spleen tyrosine kinase
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TMEM64 transmembrane protein 64
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TOB2 transducer of ERBB2, 2
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TYROBP TYRO protein tyrosine kinase binding protein
USP1 ubiquitin specific peptidase 1
WWOX WW domain containing oxidoreductase