MCID: ART022
MIFTS: 75

Arthritis malady

Bone diseases, Skin diseases categories
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Summaries for Arthritis

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MedlinePlus:33 If you feel pain and stiffness in your body or have trouble moving around, you might have arthritis. most kinds of arthritis cause pain and swelling in your joints. joints are places where two bones meet, such as your elbow or knee. over time, a swollen joint can become severely damaged. some kinds of arthritis can also cause problems in your organs, such as your eyes or skin. types of arthritis include osteoarthritis is the most common type of arthritis. it's often related to aging or to an injury. autoimmune arthritis happens when your body's immune system attacks healthy cells in your body by mistake. rheumatoid arthritis is the most common form of this kind of arthritis. juvenile rheumatoid arthritis is a form of the disease that happens in children. infectious arthritis is an infection that has spread from another part of the body to the joint. psoriatic arthritis affects people with psoriasis. gout is a painful type of arthritis that happens when too much uric acid builds up in the body. it often starts in the big toe. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards based summary: Arthritis, also known as inflammatory joint disease, is related to psoriatic arthritis and juvenile rheumatoid arthritis. An important gene associated with Arthritis is SERPINH1 (serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)), and among its related pathways are Syndecan-1-mediated signaling events and Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). The drugs meclofenamate sodium and salsalate and the compounds ilomastat and pentoxifylline have been mentioned in the context of this disorder. Affiliated tissues include joint, skin over the joint and bone, and related mouse phenotypes are limbs/digits/tail and skeleton.

Disease Ontology:8 A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located in joint and/or redness located in skin over the joint.

CDC:3 Arthritis affects 52.5 million U.S. adults, more than 1 in 5. It is the nation’s most common cause of disability. Learn more about arthritis, the proven ways to manage it and the resources available to public health professionals.

Wikipedia:65 Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint... more...

Aliases & Classifications for Arthritis

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Arthritis, Aliases & Descriptions:

Name: Arthritis 30 8 10 44 33 62
Inflammatory Joint Disease 44 62
 
Inflammatory Disorder of Joint 8


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases, Skin diseases


External Ids:

Disease Ontology8 DOID:848
NCIt39 C2883
MeSH34 D001168
ICD1025 M13.8, M13.9

Related Diseases for Arthritis

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Diseases in the Arthritis family:

Transient Arthritis

Diseases related to Arthritis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 1049)
idRelated DiseaseScoreTop Affiliating Genes
1psoriatic arthritis32.5PTPN22, MMP3, MMP1, IL1A
2juvenile rheumatoid arthritis32.4LTA, IL1A, IL6
3rheumatoid arthritis32.3MMP3, MMP11, MMP8, MMP19, MMP1, IL10
4psoriasis31.9IL10, LTA, IL1A, MMP19, PTPN22, IL6
5systemic lupus erythematosus31.8IL10, MMP3, PTPN22, IL6, LTA, SERPINH1
6uveitis31.7IL1A, LTA, IL10
7synovitis31.7MMP13, MMP3, MMP11, MMP8, MMP1, IL6
8osteoarthritis31.6MMP9, MMP12, MMP2, MMP3, MMP8, MMP1
9periodontitis31.6MMP9, IL1A, MMP8
10pneumonia31.6IL6, IL10, MMP8, MMP12
11arthropathy31.5MMP1, MMP3, MMP13
12osteoporosis31.4MMP3, MMP13, MMP8, IL6
13connective tissue disease31.4IL10, PTPN22, IL6
14periodontal disease31.2IL6, MMP1, MMP2, MMP3
15meningitis31.2MMP9, IL6
16gingivitis31.0MMP13, MMP1, MMP8, IL1A
17aggressive periodontitis31.0IL1A, MMP1, MMP8
18asthma31.0MMP12, IL10, MMP8, MMP3, MMP9
19atherosclerosis31.0MMP3, MMP10, MMP8, MMP1, MMP12, MMP2
20diabetes mellitus31.0PTPN22, IL6, MMP3, MMP9
21lymphopenia30.9IL10, PTPN22, IL6
22pulmonary fibrosis30.9SERPINH1, MMP1, MMP2, MMP9, MMP13
23visceral leishmaniasis30.9IL10, LTA
24sepsis30.9IL1A, IL10, LTA, IL6
25kawasaki disease30.9MMP3, MMP9
26inflammatory bowel disease30.9PTPN22, MMP13, MMP3, MMP1, IL10, IL6
27ulcerative colitis30.9IL1A, IL10, MMP13, MMP3, MMP1, LTA
28vascular disease30.8MMP3, IL1A, IL6, MMP2, IL10
29multiple sclerosis30.7MMP9, MMP12, LTA, MMP8, IL6, IL10
30tonsillitis30.7IL1A, LTA
31graves' disease30.7IL1A, PTPN22, LTA
32skin disease30.7MMP1, IL10, IL1A
33aneurysm30.7MMP12, MMP2, MMP3, MMP8, MMP9
34dermatitis herpetiformis30.7MMP3, MMP12
35atopic dermatitis30.6LTA, IL10, IL1A
36chronic obstructive pulmonary disease30.6IL6, MMP9, MMP12
37melanoma30.5MMP13, MMP1, MMP11, MMP2, IL1A, MMP12
38systemic scleroderma30.5IL1A, PTPN22, SERPINH1, MMP3, MMP1, MMP12
39breast cancer30.5MMP13, MMP2, MMP9, MMP1, MMP11, MMP17
40septic shock30.5LTA, IL6, IL10, IL1A
41cerebrovascular disease30.4MMP8, MMP13, MMP12, LTA
42bladder carcinoma30.4MMP9, MMP12, MMP2, MMP13, LTA
43diverticulitis30.4MMP13
44thoracic aortic aneurysm30.4MMP1, MMP2
45chorioamnionitis30.4SERPINH1, IL6, MMP8
46lepromatous leprosy30.3IL10, LTA
47idiopathic pulmonary fibrosis30.3IL1A, MMP1, MMP9, SERPINH1
48bacterial vaginosis30.3IL1A, SERPINH1
49keratoconus30.2MMP3, MMP10, MMP1, MMP8, MMP2
50adenocarcinoma30.2MMP15, MMP10, MMP11, MMP2, MMP13, MMP12

Graphical network of the top 20 diseases related to Arthritis:



Diseases related to arthritis

Symptoms for Arthritis

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Drugs & Therapeutics for Arthritis

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Drug clinical trials:

Search ClinicalTrials for Arthritis

Search NIH Clinical Center for Arthritis

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Arthritis

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Anatomical Context for Arthritis

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MalaCards organs/tissues related to Arthritis:

32
Bone, T cells, Monocytes, Skin, Endothelial, Neutrophil, B cells, Lung, Testes, Eye, Bone marrow, Heart, Myeloid, Thyroid, Liver, Whole blood, Pituitary, Kidney, Breast, Lymph node, Spleen, Spinal cord, Colon, Tonsil, Nk cells, Brain, Salivary gland, Tongue, Thymus, Retina, Smooth muscle, Skeletal muscle, Small intestine, Placenta, Prostate, Cervix

FMA organs/tissues related to Arthritis:

14
Joint, Skin over the joint

Animal Models for Arthritis or affiliated genes

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Publications for Arthritis

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Articles related to Arthritis:

(show top 50)    (show all 11300)
idTitleAuthorsYear
1
JAK/STAT/PKCI' molecular pathways in synovial fluid T lymphocytes reflect the in vivo T helper-17 expansion in psoriatic arthritis. (24385089)
2014
2
Does Socioeconomic Status Affect Outcomes in Early Inflammatory Arthritis? Data from a Canadian Multisite Suspected Rheumatoid Arthritis Inception Cohort. (25399388)
2014
3
Three Cases of Postoperative Septic Arthritis Caused by Mycobacterium conceptionense in Shoulder Joints of Immunocompetent Patients. (24391195)
2014
4
Risk of venous thromboembolism in patients with rheumatoid arthritis: a systematic review and meta-analysis. (24424839)
2014
5
Periarticular bone gain at proximal interphalangeal joints and changes in bone turnover markers in response to tumor necrosis factor inhibitors in rheumatoid and psoriatic arthritis. (23457381)
2013
6
Rituximab and abatacept but not tocilizumab impair antibody response to pneumococcal conjugate vaccine in patients with rheumatoid arthritis. (24286269)
2013
7
Psoriasis and psoriatic arthritis video project: an update from the 2012 GRAPPA annual meeting. (23908546)
2013
8
Impact of temporomandibular joint pain in rheumatoid arthritis. (24363501)
2013
9
Identification of anticitrullinated protein antibody reactivities in a subset of anti-CCP-negative rheumatoid arthritis: association with cigarette smoking and HLA-DRB1 'shared epitope' alleles. (24297382)
2013
10
The when and how of biologic agent withdrawal in rheumatoid arthritis: learning from large randomised controlled trials. (24129131)
2013
11
Presentation of psoriatic arthritis in the literature: a twenty-year bibliometric evaluation. (22451035)
2013
12
Enhanced HMGB1 expression may contribute to Th17 cells activation in rheumatoid arthritis. (22110531)
2012
13
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) with E250K mutation in CD2BP1 gene treated with the tumor necrosis factor inhibitor adalimumab. (22513199)
2012
14
Tumor necrosis factor promoter polymorphism TNF*-857 is a risk allele for psoriatic arthritis independent of the PSORS1 locus. (22127698)
2011
15
Interleukin-18: a mediator of inflammation and angiogenesis in rheumatoid arthritis. (21864160)
2011
16
An endocrinologist's view on relative adrenocortical insufficiency in rheumatoid arthritis. (20398019)
2010
17
Accelerated atherosclerosis in rheumatoid arthritis: rationale for mannose-binding lectins? (20197564)
2010
18
Investigation of genetic variants within candidate genes of the TNFRSF1B signalling pathway on the response to anti-TNF agents in a UK cohort of rheumatoid arthritis patients. (19262425)
2009
19
Purpura fulminans in a patient with rheumatoid arthritis. (19997707)
2009
20
Update on the management of pain in arthritis and the use of cyclooxygenase-2 inhibitors. (19889287)
2009
21
Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis. (18311812)
2008
22
Overexpression of toll-like receptors 3 and 4 in synovial tissue from patients with early rheumatoid arthritis: toll-like receptor expression in early and longstanding arthritis. (19035519)
2008
23
Analysis of factors influencing prognosis in foals with septic arthritis. (21851707)
2008
24
Large pericardial effusion requiring pericardiocentesis as cardinal sign of macrophage activation syndrome in systemic onset-juvenile idiopathic arthritis. (17160383)
2007
25
What is after cytokine-blocking therapy, a novel therapeutic target-- synovial Epstein-Barr virus for rheumatoid arthritis. (17289546)
2007
26
Interleukin-15 selectively expands CD57+ CD28- CD4+ T cells, which are increased in active rheumatoid arthritis. (17644042)
2007
27
High levels of inflammatory chemokines and cytokines in joint fluid and synovial tissue throughout the course of antibiotic-refractory lyme arthritis. (17393419)
2007
28
Interleukin-1beta influences the effect of infliximab on temporomandibular joint pain in rheumatoid arthritis. (16766364)
2006
29
New immunoserological tests and pathogenesis for rheumatoid arthritis]. (16190360)
2005
30
TNF inhibitors for inflammatory arthritis in New Zealand. (16258581)
2005
31
Synthesis and activity of substituted 4-(indazol-3-yl)phenols as pathway-selective estrogen receptor ligands useful in the treatment of rheumatoid arthritis. (15588074)
2004
32
Novel approaches to gene expression analysis of active polyarticular juvenile rheumatoid arthritis. (14979934)
2004
33
Streptococcal toxic shock syndrome and sepsis manifesting in a patient with chronic rheumatoid arthritis. (15347489)
2004
34
Twenty eight joint count disease activity score in recent onset rheumatoid arthritis using C reactive protein instead of erythrocyte sedimentation rate. (12810437)
2003
35
Lack of association between juvenile idiopathic arthritis and fas gene polymorphism. (11824955)
2002
36
Expression of interleukin-18 and its monokine-directed function in rheumatoid arthritis. (11285378)
2001
37
Blau syndrome (familial granulomatous arthritis, iritis, and rash) in an african-american family. (19078446)
2000
38
What's new in the diagnosis and treatment of juvenile rheumatoid arthritis. (10912594)
2000
39
Genetic association between rheumatoid arthritis and estrogen receptor microsatellite polymorphism. (10914844)
2000
40
Juvenile rheumatoid arthritis in a Canadian First Nations (aboriginal) population: onset subtypes and HLA associations. (9558186)
1998
41
Heat shock proteins as potential targets in the therapy of inflammatory arthritis. (9559974)
1998
42
Geographic choroiditis and retinal vasculitis in rheumatoid arthritis. (9537875)
1998
43
Complement components C1q, C1r/C1s, and C1INH in rheumatoid arthritis. Correlation of in situ hybridization and northern blot results with function and protein concentration in synovium and primary cell cultures. (7718002)
1995
44
Cytokine levels in serum and synovial fluid of patients with juvenile rheumatoid arthritis. (7699643)
1994
45
New directions for biological therapy in rheumatoid arthritis. (8199454)
1994
46
Circulating concentrations and production of cytokines and soluble receptors in rheumatoid arthritis patients: effects of a single dose methotrexate. (7981988)
1994
47
The effect of plasmapheresis on the function of the calcium-regulating systems in patients with rheumatoid arthritis]. (1887430)
1991
48
Studies on the metabolism of D-penicillamine and its interaction with probenecid in cystinuria and rheumatoid arthritis. (6481720)
1984
49
Alkaptonuria, ochronosis, and arthritis in a Cypriot woman. (13938285)
1963
50
Intestinal perforation and widespread arteritis in rheumatoid arthritis during treatment with cortisone. (13629041)
1959

Variations for Arthritis

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Expression for genes affiliated with Arthritis

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Expression patterns in normal tissues for genes affiliated with Arthritis

Search GEO for disease gene expression data for Arthritis.

Pathways for genes affiliated with Arthritis

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Pathways related to Arthritis according to GeneCards/GeneDecks:

(show all 33)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3MMP1, MMP9
210.3MMP1, MMP2
310.3MMP9, MMP2
410.2LTA, IL10
510.2MMP1, MMP3, MMP9
6
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
10.2MMP1, MMP3, MMP13
710.2MMP9, MMP13, SERPINH1
810.2MMP9, MMP2, IL6
910.2MMP9, MMP2, IL6
1010.2MMP2, MMP9, MMP13
11
Show member pathways
IL23-mediated signaling events37
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling37
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
10.2IL6, IL10, MMP2
12
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway37
Apoptosis Modulation by HSP7037
HIV-1 Nef- Negative effector of Fas and TNF-alpha37
10.1LTA, IL6, MMP9
1310.1MMP9, IL6, IL1A
14
Show member pathways
IL27-mediated signaling events37
10.1LTA, IL6, IL10
1510.1IL10, IL6, IL1A
1610.1IL1A, IL6, IL10
1710.1IL1A, IL6, IL10
1810.1IL1A, IL6, IL10
19
Show member pathways
Transcription NF kB signaling pathway60
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response60
10.1IL6, IL1A, LTA
20
Show member pathways
10.1SERPINH1, MMP13, MMP9, MMP3
2110.1IL6, MMP1, MMP2, MMP9
2210.1IL6, MMP1, MMP2, MMP9
2310.1MMP3, MMP1, IL6, IL1A
2410.1MMP9, MMP3, IL6, LTA
25
Show member pathways
10.0LTA, IL1A, IL6, IL10
2610.0IL10, IL6, IL1A, LTA
27
Show member pathways
9.9LTA, IL1A, IL6, IL10, PTPN22
289.8MMP9, MMP12, MMP2, MMP11, MMP1, IL6
29
Show member pathways
9.3MMP2, MMP12, MMP9, MMP13, MMP3, MMP11
30
Show member pathways
9.2MMP13, MMP9, MMP12, MMP2, MMP3, MMP11
31
Show member pathways
9.2MMP13, MMP15, MMP1, MMP19, MMP8, MMP10
32
Show member pathways
9.0MMP17, MMP3, MMP2, MMP12, MMP9, MMP13
33
Show member pathways
8.9MMP15, MMP1, MMP19, MMP8, MMP10, MMP11

Compounds for genes affiliated with Arthritis

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Compounds related to Arthritis according to GeneCards/GeneDecks:

(show top 50)    (show all 160)
idCompoundScoreTop Affiliating Genes
1ilomastat4410.4MMP9, MMP1, MMP3, MMP2
2pentoxifylline44 1111.4IL10, IL6, IL1A, LTA
3latanoprost44 1111.4MMP9, MMP2, MMP3, MMP1
4clodronate44 50 1112.3MMP1, IL6, IL10, MMP8, MMP13
5cgs-27023a4410.3MMP9, MMP2, MMP1
6alendronate44 50 1112.3MMP8, MMP3, MMP2, MMP13, MMP1
7rantes4410.2IL1A, IL10, MMP1, MMP3, MMP9, MMP13
8etanercept44 50 1112.2MMP3, MMP12, LTA, IL6, IL10, MMP1
9doxycycline44 1111.2MMP13, MMP3, MMP9, MMP2, MMP8, MMP1
10hydroxamate4410.2MMP13, MMP9, MMP12, MMP2, MMP3, MMP1
11infliximab44 50 1112.2IL6, IL10, MMP1, LTA, MMP3
12ivig4410.2LTA, MMP2, IL1A, MMP9, IL6, IL10
13procollagen4410.2MMP3, MMP2, MMP9, SERPINH1, IL1A, MMP1
14(4-aminophenyl)mercuric acetate4410.2MMP13, MMP9, MMP2, MMP8, MMP1, MMP10
15ibuprofen44 28 50 24 1114.2IL10, MMP1, MMP2, IL6, MMP3
16tetracycline44 1111.2IL1A, MMP8, MMP2, MMP9, MMP1, MMP13
17glycosaminoglycan4410.1MMP13, MMP9, MMP3, MMP8, MMP1, IL1A
18aprotinin44 1111.1MMP13, MMP9, IL10, MMP2, MMP1, IL6
19n-isobutyl-n-[4-methoxyphenylsulfonyl]glycyl hydroxamic acid44 1111.1MMP10, MMP3, MMP12
20prednisolone44 28 1112.1MMP1, LTA, IL6, IL10, MMP13, MMP2
21egcg4410.1MMP3, MMP1, IL1A, MMP2, MMP13, MMP9
22pdtc4410.1MMP9, MMP2, MMP1, IL6, IL1A
23curcumin4410.1IL6, MMP13, MMP2, MMP3, MMP1, MMP9
24herbimycin a44 6111.1MMP9, MMP2, MMP13, MMP1, IL1A, LTA
25tgf beta14410.1LTA, IL6, MMP1, MMP3, MMP13, MMP2
26hyaluronic acid44 2411.0IL1A, MMP13, MMP9, MMP2, MMP3, LTA
27prostaglandin4410.0IL1A, MMP1, MMP9, MMP3, MMP13, IL6
28sb 20358044 6111.0IL1A, MMP13, MMP3, IL6, MMP2, MMP9
29matrigel4410.0MMP13, MMP9, MMP12, MMP2, MMP3, MMP10
30genistein44 28 61 2 24 1114.9MMP12, MMP13, MMP9, MMP2, MMP3, MMP8
31cyclosporin a44 28 6111.9IL1A, IL6, IL10, MMP1, MMP8, MMP3
32paraffin449.9MMP2, MMP9, LTA, IL10, MMP1, MMP13
33methotrexate50 44 1111.9IL10, IL6, MMP2, MMP9, MMP3, MMP1
34cycloheximide449.9MMP3, MMP9, MMP2, MMP1, IL10, IL6
3512-o-tetradecanoylphorbol 13-acetate449.9MMP13, MMP9, MMP2, MMP3, LTA, IL1A
36pge2449.8MMP2, MMP3, MMP9, MMP13, MMP8, MMP1
37dexamethasone44 50 28 1112.8MMP9, MMP12, MMP3, MMP1, IL10, IL6
38progesterone44 28 61 24 1113.8IL1A, MMP8, MMP2, MMP3, MMP11, LTA
39lactate449.7IL6, MMP1, MMP8, MMP3, MMP2, MMP9
40pravastatin44 50 28 24 1113.7MMP1, MMP2, MMP3, IL6, IL1A
41retinoic acid44 2410.6MMP13, LTA, MMP9, IL1A, BST1, IL6
42oligonucleotide449.6MMP13, MMP1, MMP8, SERPINH1, MMP10, LTA
43gi 254023x619.5MMP8, MMP19, MMP1, MMP15, MMP3, MMP13
44gm 6001619.5MMP19, MMP1, MMP15, MMP8, MMP10, MMP13
45serine449.5IL1A, MMP2, MMP1, MMP8, MMP10, MMP11
46marimastat44 61 1111.5MMP13, MMP9, MMP12, MMP2, MMP3, MMP17
47batimastat44 61 1111.5MMP15, MMP1, MMP19, MMP9, MMP12, MMP2
48uk 383367619.5MMP13, MMP12, MMP2, MMP3, MMP17, MMP11
49vegf449.3MMP8, MMP10, MMP11, MMP3, MMP2, MMP12
50calcium44 50 24 1112.2MMP3, LTA, BST1, MMP13, MMP9, MMP12

GO Terms for genes affiliated with Arthritis

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Cellular components related to Arthritis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055769.1IL6, MMP1, MMP19, MMP8, MMP10, MMP11
2proteinaceous extracellular matrixGO:0055789.1MMP17, MMP1, MMP19, MMP8, MMP10, MMP11
3extracellular spaceGO:0056159.0IL1A, MMP13, MMP9, MMP2, MMP3, MMP10

Biological processes related to Arthritis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of growth of symbiont in hostGO:04413010.2LTA, IL10
2humoral immune responseGO:0069599.8LTA, IL6, BST1
3proteolysisGO:0065089.4MMP13, MMP9, MMP12, MMP2, MMP3, MMP11
4collagen catabolic processGO:0305749.2MMP12, MMP2, MMP3, MMP11, MMP10, MMP8
5extracellular matrix disassemblyGO:0226179.2MMP13, MMP9, MMP12, MMP2, MMP3, MMP11
6extracellular matrix organizationGO:0301989.0MMP12, MMP2, MMP3, MMP11, MMP10, MMP8

Molecular functions related to Arthritis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00512510.0LTA, IL1A, IL6, IL10
2metalloendopeptidase activityGO:0042229.0MMP15, MMP13, MMP9, MMP12, MMP2, MMP3
3calcium ion bindingGO:0055098.9MMP13, MMP12, MMP3, MMP17, MMP11, MMP10
4zinc ion bindingGO:0082708.9MMP3, MMP2, MMP12, MMP9, MMP13, MMP17

Products for genes affiliated with Arthritis

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Sources for Arthritis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet