abnormal trabecular bone thickness Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the width of bone that has a lattice-like or spongy structure (Mammalian Phenotype Ontology, MP_0009345)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009345
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Genes

62 gene mutations causing the abnormal trabecular bone thickness phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABHD5 abhydrolase domain containing 5
AGER advanced glycosylation end product-specific receptor
AGTR2 angiotensin II receptor, type 2
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
AMPD3 adenosine monophosphate deaminase 3
BGLAP bone gamma-carboxyglutamate (gla) protein
CASP3 caspase 3, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CCR2 chemokine (C-C motif) receptor 2
CD47 CD47 molecule
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CHAD chondroadherin
CHSY1 chondroitin sulfate synthase 1
CISD2 CDGSH iron sulfur domain 2
CIT citron rho-interacting serine/threonine kinase
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
CREB3L1 cAMP responsive element binding protein 3-like 1
CSF1 colony stimulating factor 1 (macrophage)
CTGF connective tissue growth factor
CTHRC1 collagen triple helix repeat containing 1
EBF1 early B-cell factor 1
FAM107B family with sequence similarity 107, member B
FAM20C family with sequence similarity 20, member C
HIVEP3 human immunodeficiency virus type I enhancer binding protein 3
HTRA1 HtrA serine peptidase 1
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IGHM immunoglobulin heavy constant mu
IL10 interleukin 10
IL20RA interleukin 20 receptor, alpha
IL6ST interleukin 6 signal transducer
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa
INPP5D inositol polyphosphate-5-phosphatase, 145kDa
IRS1 insulin receptor substrate 1
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
LRRK1 leucine-rich repeat kinase 1
MGP matrix Gla protein
NACA nascent polypeptide-associated complex alpha subunit
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NLRP3 NLR family, pyrin domain containing 3
NOS1 nitric oxide synthase 1 (neuronal)
NOS3 nitric oxide synthase 3 (endothelial cell)
NPY2R neuropeptide Y receptor Y2
PDK4 pyruvate dehydrogenase kinase, isozyme 4
PGR progesterone receptor
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
RASSF2 Ras association (RalGDS/AF-6) domain family member 2
SBNO2 strawberry notch homolog 2 (Drosophila)
SNAPC4 small nuclear RNA activating complex, polypeptide 4, 190kDa
SOST sclerostin
SPP1 secreted phosphoprotein 1
SUCO SUN domain containing ossification factor
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TMEM64 transmembrane protein 64
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TRPV5 transient receptor potential cation channel, subfamily V, member 5
WWOX WW domain containing oxidoreductase
XYLT1 xylosyltransferase I