pathologic fracture Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. (Human Phenotype Ontology, HP_0002756)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002756
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Genes

23 genes associated with the pathologic fracture phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGA aspartylglucosaminidase
AGXT alanine-glyoxylate aminotransferase
ALPL alkaline phosphatase, liver/bone/kidney
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
CTC1 CTS telomere maintenance complex component 1
GBA glucosidase, beta, acid
GK glycerol kinase
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
LIFR leukemia inhibitory factor receptor alpha
LRP5 low density lipoprotein receptor-related protein 5
MTAP methylthioadenosine phosphorylase
NOTCH2 notch 2
OCRL oculocerebrorenal syndrome of Lowe
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PTH1R parathyroid hormone 1 receptor
SC5D sterol-C5-desaturase
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TREM2 triggering receptor expressed on myeloid cells 2
TYROBP TYRO protein tyrosine kinase binding protein
UROS uroporphyrinogen III synthase