osteoarthritis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans. (Experimental Factor Ontology, EFO_0002506)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002758
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Genes

42 genes associated with the osteoarthritis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
AIP aryl hydrocarbon receptor interacting protein
ANKH ANKH inorganic pyrophosphate transport regulator
ATP7B ATPase, Cu++ transporting, beta polypeptide
CANT1 calcium activated nucleotidase 1
CLCN7 chloride channel, voltage-sensitive 7
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
FBN1 fibrillin 1
FGFR3 fibroblast growth factor receptor 3
GBA glucosidase, beta, acid
GHR growth hormone receptor
GNAS GNAS complex locus
HGD homogentisate 1,2-dioxygenase
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
KIF22 kinesin family member 22
KIF7 kinesin family member 7
LMX1B LIM homeobox transcription factor 1, beta
MATN3 matrilin 3
MEFV Mediterranean fever
MMP13 matrix metallopeptidase 13
PHEX phosphate regulating endopeptidase homolog, X-linked
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
SCARB2 scavenger receptor class B, member 2
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SMAD3 SMAD family member 3
TNXB tenascin XB
TRAPPC2 trafficking protein particle complex 2
TRPS1 trichorhinophalangeal syndrome I
WISP3 WNT1 inducible signaling pathway protein 3