osteoporosis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis. (Experimental Factor Ontology, EFO_0003882)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000066
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Genes

39 gene mutations causing the osteoporosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
ARHGAP1 Rho GTPase activating protein 1
ARL6IP5 ADP-ribosylation factor-like 6 interacting protein 5
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATR ATR serine/threonine kinase
BGN biglycan
CNOT3 CCR4-NOT transcription complex, subunit 3
CRTAP cartilage associated protein
CSF1 colony stimulating factor 1 (macrophage)
CTHRC1 collagen triple helix repeat containing 1
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ERCC2 excision repair cross-complementation group 2
FHL2 four and a half LIM domains 2
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
HELLS helicase, lymphoid-specific
IAPP islet amyloid polypeptide
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IL6ST interleukin 6 signal transducer
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
KL klotho
LMNA lamin A/C
LRP6 low density lipoprotein receptor-related protein 6
MCHR1 melanin-concentrating hormone receptor 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
NCOA1 nuclear receptor coactivator 1
POLG polymerase (DNA directed), gamma
PPIB peptidylprolyl isomerase B (cyclophilin B)
PTHLH parathyroid hormone-like hormone
RASSF2 Ras association (RalGDS/AF-6) domain family member 2
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC39A14 solute carrier family 39 (zinc transporter), member 14
THRB thyroid hormone receptor, beta
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TOB2 transducer of ERBB2, 2
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZDHHC13 zinc finger, DHHC-type containing 13