osteoarthritis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An arthritis that has_material_basis_in worn out cartilage located_in joint. (Human Disease Ontology, DOID_8398)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002758
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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