Osteoarthritis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C2350242
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Genes

430 genes associated with the disease Osteoarthritis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ACAN aggrecan
ACE angiotensin I converting enzyme
ACLY ATP citrate lyase
ACP5 acid phosphatase 5, tartrate resistant
ACR acrosin
ADAM11 ADAM metallopeptidase domain 11
ADAM12 ADAM metallopeptidase domain 12
ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif, 14
ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif, 3
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4
ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5
ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif, 9
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADIPOQ adiponectin, C1Q and collagen domain containing
ADIPOR1 adiponectin receptor 1
AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
AGER advanced glycosylation end product-specific receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AIF1 allograft inflammatory factor 1
AKNA AT-hook transcription factor
ALB albumin
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALPL alkaline phosphatase, liver/bone/kidney
AMH anti-Mullerian hormone
ANGPT2 angiopoietin 2
ANKRD6 ankyrin repeat domain 6
ANP32A acidic (leucine-rich) nuclear phosphoprotein 32 family, member A
AOC3 amine oxidase, copper containing 3
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APCDD1 adenomatosis polyposis coli down-regulated 1
APLN apelin
AQP1 aquaporin 1 (Colton blood group)
AR androgen receptor
ARSA arylsulfatase A
ASL argininosuccinate lyase
ASPN asporin
ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1
ASTN2 astrotactin 2
ATF3 activating transcription factor 3
BAG6 BCL2-associated athanogene 6
BAK1 BCL2-antagonist/killer 1
BAX BCL2-associated X protein
BCAP29 B-cell receptor-associated protein 29
BCAR1 breast cancer anti-estrogen resistance 1
BCL2 B-cell CLL/lymphoma 2
BCL9 B-cell CLL/lymphoma 9
BDKRB2 bradykinin receptor B2
BEST1 bestrophin 1
BGLAP bone gamma-carboxyglutamate (gla) protein
BID BH3 interacting domain death agonist
BMP4 bone morphogenetic protein 4
BMP5 bone morphogenetic protein 5
BPI bactericidal/permeability-increasing protein
BTNL2 butyrophilin-like 2
BTNL8 butyrophilin-like 8
BUD31 BUD31 homolog (S. cerevisiae)
C4BPA complement component 4 binding protein, alpha
CALCA calcitonin-related polypeptide alpha
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CALM2 calmodulin 2 (phosphorylase kinase, delta)
CALM3 calmodulin 3 (phosphorylase kinase, delta)
CARD14 caspase recruitment domain family, member 14
CCDC33 coiled-coil domain containing 33
CCL11 chemokine (C-C motif) ligand 11
CCL2 chemokine (C-C motif) ligand 2
CCL20 chemokine (C-C motif) ligand 20
CCL22 chemokine (C-C motif) ligand 22
CCL3 chemokine (C-C motif) ligand 3
CCL4 chemokine (C-C motif) ligand 4
CCL4L1 chemokine (C-C motif) ligand 4-like 1
CCL4L2 chemokine (C-C motif) ligand 4-like 2
CCN2 cellular communication network factor 2
CCND1 cyclin D1
CCR2 chemokine (C-C motif) receptor 2
CCR6 chemokine (C-C motif) receptor 6
CCR7 chemokine (C-C motif) receptor 7
CD36 CD36 molecule (thrombospondin receptor)
CD40 CD40 molecule, TNF receptor superfamily member 5
CD44 CD44 molecule (Indian blood group)
CDA cytidine deaminase
CDAN1 codanin 1
CDC50A cell division cycle 50 P4-ATPase accessory subunit A
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CDK2 cyclin-dependent kinase 2
CDK4 cyclin-dependent kinase 4
CDX2 caudal type homeobox 2
CFP complement factor properdin
CHADL chondroadherin-like
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CHIT1 chitinase 1 (chitotriosidase)
CHRM3 cholinergic receptor, muscarinic 3
CHST11 carbohydrate (chondroitin 4) sulfotransferase 11
CILP cartilage intermediate layer protein, nucleotide pyrophosphohydrolase
CIRBP cold inducible RNA binding protein
CLCN7 chloride channel, voltage-sensitive 7
CLEC11A C-type lectin domain family 11, member A
CLU clusterin
CMC1 C-x(9)-C motif containing 1
CNR2 cannabinoid receptor 2 (macrophage)
COL10A1 collagen, type X, alpha 1
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COLGALT2 collagen beta(1-O)galactosyltransferase 2
COMP cartilage oligomeric matrix protein
CORO7 coronin 7
COX2
COX5A cytochrome c oxidase subunit Va
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CPEB1 cytoplasmic polyadenylation element binding protein 1
CPOX coproporphyrinogen oxidase
CRADD CASP2 and RIPK1 domain containing adaptor with death domain
CREB1 cAMP responsive element binding protein 1
CRHR1 corticotropin releasing hormone receptor 1
CRP C-reactive protein, pentraxin-related
CSE1L CSE1 chromosome segregation 1-like (yeast)
CSF3 colony stimulating factor 3 (granulocyte)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNND1 catenin (cadherin-associated protein), delta 1
CTRL chymotrypsin-like
CTSK cathepsin K
CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL8 chemokine (C-X-C motif) ligand 8
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
DCSTAMP dendrocyte expressed seven transmembrane protein
DDIT3 DNA-damage-inducible transcript 3
DDR2 discoidin domain receptor tyrosine kinase 2
DIABLO diablo, IAP-binding mitochondrial protein
DIO2 deiodinase, iodothyronine, type II
DKK1 dickkopf WNT signaling pathway inhibitor 1
DMD dystrophin
DMP1 dentin matrix acidic phosphoprotein 1
DOT1L DOT1-like histone H3K79 methyltransferase
DUS4L dihydrouridine synthase 4-like (S. cerevisiae)
DYNC1I1 dynein, cytoplasmic 1, intermediate chain 1
E2F1 E2F transcription factor 1
EEF1A1 eukaryotic translation elongation factor 1 alpha 1
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EGF epidermal growth factor
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF3K eukaryotic translation initiation factor 3, subunit K
ELAVL2 ELAV like neuron-specific RNA binding protein 2
ENHO energy homeostasis associated
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EP300 E1A binding protein p300
EPAS1 endothelial PAS domain protein 1
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
F2RL1 coagulation factor II (thrombin) receptor-like 1
FABP4 fatty acid binding protein 4, adipocyte
FAM46A family with sequence similarity 46, member A
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FGF18 fibroblast growth factor 18
FGF2 fibroblast growth factor 2 (basic)
FILIP1 filamin A interacting protein 1
FN1 fibronectin 1
FOXK1 forkhead box K1
FOXO1 forkhead box O1
FOXP3 forkhead box P3
FRZB frizzled-related protein
FST follistatin
FTO fat mass and obesity associated
FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GDF5 growth differentiation factor 5
GDF6 growth differentiation factor 6
GJA1 gap junction protein, alpha 1, 43kDa
GLA galactosidase, alpha
GLIS3 GLIS family zinc finger 3
GLT8D1 glycosyltransferase 8 domain containing 1
GMDS GDP-mannose 4,6-dehydratase
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNL3 guanine nucleotide binding protein-like 3 (nucleolar)
GORASP1 golgi reassembly stacking protein 1, 65kDa
GPC3 glypican 3
GREM1 gremlin 1, DAN family BMP antagonist
GRINA glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)
GRK5 G protein-coupled receptor kinase 5
GSDMC gasdermin C
GSDMD gasdermin D
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
GTF3A general transcription factor IIIA
HDAC7 histone deacetylase 7
HDAC9 histone deacetylase 9
HFE hemochromatosis
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIST1H2BC histone cluster 1, H2bc
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HMGB1 high mobility group box 1
HSPA14 heat shock 70kDa protein 14
HSPA4 heat shock 70kDa protein 4
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGFBP3 insulin-like growth factor binding protein 3
IGFBP7 insulin-like growth factor binding protein 7
IL10 interleukin 10
IL11 interleukin 11
IL13 interleukin 13
IL16 interleukin 16
IL17A interleukin 17A
IL17F interleukin 17F
IL18 interleukin 18
IL18R1 interleukin 18 receptor 1
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1RN interleukin 1 receptor antagonist
IL21 interleukin 21
IL22 interleukin 22
IL23A interleukin 23, alpha subunit p19
IL34 interleukin 34
IL4 interleukin 4
IL4R interleukin 4 receptor
IL6 interleukin 6
ITGAV integrin, alpha V
ITIH1 inter-alpha-trypsin inhibitor heavy chain 1
KALRN kalirin, RhoGEF kinase
KDM5D lysine (K)-specific demethylase 5D
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KIAA1217 KIAA1217
KL klotho
KLHL42 kelch-like family member 42
LBP lipopolysaccharide binding protein
LCTL lactase-like
LEP leptin
LEPR leptin receptor
LMX1B LIM homeobox transcription factor 1, beta
LOC102724428 serine/threonine-protein kinase SIK1
LOXL2 lysyl oxidase-like 2
LPAR1 lysophosphatidic acid receptor 1
LRCH1 leucine-rich repeats and calponin homology (CH) domain containing 1
LRIG3 leucine-rich repeats and immunoglobulin-like domains 3
LRP2 low density lipoprotein receptor-related protein 2
LRP5 low density lipoprotein receptor-related protein 5
LTBP1 latent transforming growth factor beta binding protein 1
LTBP3 latent transforming growth factor beta binding protein 3
LUM lumican
MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1
MAP2K6 mitogen-activated protein kinase kinase 6
MAPK8 mitogen-activated protein kinase 8
MAPT microtubule-associated protein tau
MATN1 matrilin 1, cartilage matrix protein
MATN3 matrilin 3
MED12 mediator complex subunit 12
MGP matrix Gla protein
MLXIP MLX interacting protein
MMP1 matrix metallopeptidase 1
MMP13 matrix metallopeptidase 13
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP8 matrix metallopeptidase 8
MMP9 matrix metallopeptidase 9
MMRN1 multimerin 1
MOK MOK protein kinase
MSTN myostatin
MYD88 myeloid differentiation primary response 88
MYO6 myosin VI
MZB1 marginal zone B and B1 cell-specific protein
NCOA3 nuclear receptor coactivator 3
NF1 neurofibromin 1
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NGF nerve growth factor (beta polypeptide)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NLRP1 NLR family, pyrin domain containing 1
NLRP3 NLR family, pyrin domain containing 3
NME8 NME/NM23 family member 8
NOG noggin
NPPA natriuretic peptide A
NR1I2 nuclear receptor subfamily 1, group I, member 2
NT5DC2 5'-nucleotidase domain containing 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OLR1 oxidized low density lipoprotein (lectin-like) receptor 1
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PARD3B par-3 family cell polarity regulator beta
PCDHGA12 protocadherin gamma subfamily A, 12
PCSK6 proprotein convertase subtilisin/kexin type 6
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDCD1 programmed cell death 1
PDE3B phosphodiesterase 3B, cGMP-inhibited
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDZK1 PDZ domain containing 1
PENK proenkephalin
PEPD peptidase D
PHB prohibitin
PI3 peptidase inhibitor 3, skin-derived
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PITX1 paired-like homeodomain 1
PLAU plasminogen activator, urokinase
PLEC plectin
PLIN1 perilipin 1
PLK2 polo-like kinase 2
POMC proopiomelanocortin
PON1 paraoxonase 1
POSTN periostin, osteoblast specific factor
POU5F1 POU class 5 homeobox 1
PPARA peroxisome proliferator-activated receptor alpha
PRDX2 peroxiredoxin 2
PRG4 proteoglycan 4
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRNP prion protein
PRPF40A PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)
PTGER4 prostaglandin E receptor 4 (subtype EP4)
PTGES prostaglandin E synthase
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH parathyroid hormone
PTHLH parathyroid hormone-like hormone
PTPN5 protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)
R3HDM2 R3H domain containing 2
RAD51 RAD51 recombinase
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
REN renin
RETN resistin
RFLNA refilin A
RHOB ras homolog family member B
ROM1 retinal outer segment membrane protein 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPRD2 regulation of nuclear pre-mRNA domain containing 2
RUNX2 runt-related transcription factor 2
S100A12 S100 calcium binding protein A12
SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1
SBNO1 strawberry notch homolog 1 (Drosophila)
SDC4 syndecan 4
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
SENP6 SUMO1/sentrin specific peptidase 6
SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SFRP1 secreted frizzled-related protein 1
SFRP4 secreted frizzled-related protein 4
SGSM3 small G protein signaling modulator 3
SHBG sex hormone-binding globulin
SIK1 salt-inducible kinase 1
SIRT1 sirtuin 1
SLBP stem-loop binding protein
SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
SLC22A3 solute carrier family 22 (organic cation transporter), member 3
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC52A1 solute carrier family 52 (riboflavin transporter), member 1
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SMAD3 SMAD family member 3
SMG6 SMG6 nonsense mediated mRNA decay factor
SMO smoothened, frizzled class receptor
SMS spermine synthase
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SOCS3 suppressor of cytokine signaling 3
SOST sclerostin
SOX9 SRY (sex determining region Y)-box 9
SP1 Sp1 transcription factor
SPCS1 signal peptidase complex subunit 1 homolog (S. cerevisiae)
SPINK1 serine peptidase inhibitor, Kazal type 1
SPP1 secreted phosphoprotein 1
SREBF2 sterol regulatory element binding transcription factor 2
STC1 stanniocalcin 1
SULF1 sulfatase 1
SUPT3H suppressor of Ty 3 homolog (S. cerevisiae)
SYT1 synaptotagmin I
TAC1 tachykinin, precursor 1
TACC3 transforming, acidic coiled-coil containing protein 3
TACR1 tachykinin receptor 1
TBX1 T-box 1
TCF21 transcription factor 21
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TCP1 t-complex 1
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
TGFBR1 transforming growth factor, beta receptor 1
TGFBR3 transforming growth factor, beta receptor III
TGM2 transglutaminase 2
THBS4 thrombospondin 4
THRSP thyroid hormone responsive
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP2 TIMP metallopeptidase inhibitor 2
TINAG tubulointerstitial nephritis antigen
TLR10 toll-like receptor 10
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TLR9 toll-like receptor 9
TNC tenascin C
TNF tumor necrosis factor
TNFAIP6 tumor necrosis factor, alpha-induced protein 6
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF17 tumor necrosis factor receptor superfamily, member 17
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TP53 tumor protein p53
TRAF3 TNF receptor-associated factor 3
TRAPPC2 trafficking protein particle complex 2
TRIB1 tribbles pseudokinase 1
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSPO translocator protein (18kDa)
TWIST1 twist family bHLH transcription factor 1
UBE3B ubiquitin protein ligase E3B
UCMA upper zone of growth plate and cartilage matrix associated
UQCC1 ubiquinol-cytochrome c reductase complex assembly factor 1
USF1 upstream transcription factor 1
USP8 ubiquitin specific peptidase 8
VCAM1 vascular cell adhesion molecule 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VIP vasoactive intestinal peptide
VWF von Willebrand factor
WISP1 WNT1 inducible signaling pathway protein 1
WNK1 WNK lysine deficient protein kinase 1
WNT10A wingless-type MMTV integration site family, member 10A
WNT5B wingless-type MMTV integration site family, member 5B
WWP2 WW domain containing E3 ubiquitin protein ligase 2
XCL2 chemokine (C motif) ligand 2
ZNF410 zinc finger protein 410