MCID: SYS011
MIFTS: 44

Systemic Lupus Erythematosus, Association with malady

Genetic diseases (common) category
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Summaries for Systemic Lupus Erythematosus, Association with

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MalaCards based summary: Systemic Lupus Erythematosus, Association with is related to systemic lupus erythematosus and lupus erythematosus. An important gene associated with Systemic Lupus Erythematosus, Association with is BANK1 (B-cell scaffold protein with ankyrin repeats 1), and among its related pathways are Toll Like Receptor 7/8 (TLR7/8) Cascade and Legionellosis. The compounds chloroquine and arabinogalactan have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and thyroid, and related mouse phenotypes are liver/biliary system and renal/urinary system.

Description from OMIM:46 152700

Aliases & Classifications for Systemic Lupus Erythematosus, Association with

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Systemic Lupus Erythematosus, Association with, Aliases & Descriptions:

Name: Systemic Lupus Erythematosus, Association with 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Systemic Lupus Erythematosus, Association with

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Graphical network of the top 20 diseases related to Systemic Lupus Erythematosus, Association with:



Diseases related to systemic lupus erythematosus, association with

Symptoms for Systemic Lupus Erythematosus, Association with

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Clinical features from OMIM:

152700

Drugs & Therapeutics for Systemic Lupus Erythematosus, Association with

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Drug clinical trials:

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Genetic Tests for Systemic Lupus Erythematosus, Association with

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Anatomical Context for Systemic Lupus Erythematosus, Association with

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MalaCards organs/tissues related to Systemic Lupus Erythematosus, Association with:

32
Heart, Lung, Thyroid

Animal Models for Systemic Lupus Erythematosus, Association with or affiliated genes

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MGI Mouse Phenotypes related to Systemic Lupus Erythematosus, Association with:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6TREX1, TLR4, TLR2
2MP:00053678.0TLR2, TLR4, TLR9, TREX1
3MP:00053817.9TREX1, TLR9, TLR4, TLR2
4MP:00053847.7TLR2, TLR4, TLR9, TREX1
5MP:00053977.6TREX1, BANK1, TLR9, TLR4, TLR2
6MP:00053877.6TLR2, TLR4, TLR9, BANK1, TREX1

Publications for Systemic Lupus Erythematosus, Association with

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Articles related to Systemic Lupus Erythematosus, Association with:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
Antilymphocyte antibodies in systemic lupus erythematosus: association with disease activity and lymphopenia. (24860837)
2014
2
Epigenetic modulation of RFC1, MHC2TA and HLA-DR in systemic lupus erythematosus: Association with serological markers and six functional polymorphisms of one-carbon metabolic pathway. (24333266)
2014
3
The role of interleukin-17 in the associations between systemic lupus erythematosus and ANCA-associated vasculitis : Comment on: systemic lupus erythematosus associated with ANCA-associated vasculitis: an overlapping syndrome? (Rheumatol Int. 2012 Oct; 32(10):3285-3290). (23640026)
2013
4
Paraneoplastic systemic lupus erythematosus associated with papillary thyroid carcinoma. (24022557)
2013
5
TRAF3IP2 gene and systemic lupus erythematosus: association with disease susceptibility and pericarditis development. (23836313)
2013
6
Evaluation of the patient acceptable symptom state (PASS) in Italian patients affected by systemic lupus erythematosus: association with disease activity indices. (24039971)
2013
7
Overlap syndrome comprised of systemic sclerosis and systemic lupus erythematosus associated with spinocerebellar ataxia type 6 and MALT lymphoma. (23306375)
2013
8
Altered expression of TNFSF4 and TRAF2 mRNAs in peripheral blood mononuclear cells in patients with systemic lupus erythematosus: association with atherosclerotic symptoms and lupus nephritis. (22847298)
2012
9
Systemic lupus erythematosus associated with sickle-cell disease: a case report and literature review. (23101910)
2012
10
Systemic lupus erythematosus associated with Wells' syndrome. (21340570)
2012
11
Systemic lupus erythematosus associated with type 4 renal tubular acidosis: a case report and review of the literature. (21435204)
2011
12
Systemic lupus erythematosus: association with KIR and SLC11A1 polymorphisms, ethnic predisposition and influence in clinical manifestations at onset revealed by ancestry genetic markers in an urban Brazilian population. (21233146)
2011
13
Activation of type I interferon pathway in systemic lupus erythematosus: association with distinct clinical phenotypes. (22162633)
2011
14
Plasminogen activator inhibitor-1 polymorphisms (-844 G>A and HindIII C>G) in systemic lupus erythematosus: association with clinical variables. (20567875)
2011
15
Juvenile Systemic Lupus Erythematosus associated with Klinefelter's syndrome: A case report. (21794715)
2010
16
Spontaneous tendon rupture in systemic lupus erythematosus: association with Jaccoud's arthropathy. (19952071)
2010
17
Bilateral optic neuritis in pediatric systemic lupus erythematosus associated with antiphospholipid antibodies and neuromyelitis optica immunoglobulin. (21214161)
2010
18
Systemic lupus erythematosus associated with vasculitic syndrome (Takayasu's arteritis). (19789875)
2010
19
Autoimmune hemolytic anemia in systemic lupus erythematosus: association with thrombocytopenia. (20473539)
2010
20
Neuropsychiatric systemic lupus erythematosus associated with neuroleptic malignant syndrome. (19043159)
2008
21
Chronic toxicity risk after radiotherapy for patients with systemic sclerosis (systemic scleroderma) or systemic lupus erythematosus: association with connective tissue disorder severity. (18158195)
2008
22
Systemic lupus erythematosus association with tuberculosis - critical review]. (19023498)
2008
23
High prevalence of the metabolic syndrome in patients with systemic lupus erythematosus: association with disease characteristics and cardiovascular risk factors. (16901956)
2007
24
Interleukin-18 promoter gene polymorphisms in Chinese patients with systemic lupus erythematosus: association with CC genotype at position -607. (17364073)
2007
25
First reported pediatric case of systemic lupus erythematosus associated with prolactinoma. (15529390)
2004
26
Interleukin-10 promoter microsatellite polymorphisms in systemic lupus erythematosus: association with the anti-Sm immune response. (15304673)
2004
27
Glutathione S-transferase M null homozygosity and risk of systemic lupus erythematosus associated with sun exposure: a possible gene-environment interaction for autoimmunity. (12563680)
2003
28
Fcgamma receptor IIa, IIIa, and IIIb polymorphisms in German patients with systemic lupus erythematosus: association with clinical symptoms. (12176802)
2002
29
Drug-induced systemic lupus erythematosus associated with etanercept therapy. (11867114)
2002
30
Increased bioactive TNF in human systemic lupus erythematosus: associations with cell death. (11958572)
2002
31
Calciphylaxis in a patient with end-stage renal disease secondary to systemic lupus erythematosus associated with acral gangrene and mesenteric ischemia. (11813850)
2001
32
Elevated bioactive prolactin levels in systemic lupus erythematosus--association with disease activity. (11669159)
2001
33
Rheumatoid factors in systemic lupus erythematosus: association with clinical and laboratory parameters. SLE study group. (10776689)
2000
34
Fcgamma receptor polymorphisms in systemic lupus erythematosus: association with disease and in vivo clearance of immune complexes. (11145038)
2000
35
Thrombomodulin in systemic lupus erythematosus: association with clinical and laboratory parameters. (10651075)
1999
36
Fcgamma receptor IIa polymorphism in Caucasian patients with systemic lupus erythematosus: association with clinical symptoms. (9663473)
1998
37
Systemic lupus erythematosus associated with primary large cell carcinoma of the lung. (9951696)
1998
38
Systemic lupus erythematosus associated with transverse myelitis and parkinsonian symptoms. (9302666)
1997
39
A case of systemic lupus erythematosus associated with severe fibrinoid necrosis located mainly in the glomerular afferent arteriole]. (7699957)
1995
40
Usefulness of immunoadsorption therapy for systemic lupus erythematosus associated with transverse myelitis. A case report. (8964648)
1995
41
Systemic lupus erythematosus associated with pernicious anemia. (8039301)
1994
42
Effectiveness of dapsone on refractory immune thrombocytopenia in a patient with systemic lupus erythematosus associated with sarcoidosis]. (8360992)
1993
43
An elderly case of systemic lupus erythematosus associated with herpes zoster, anemia, and hemiparesis]. (1795445)
1991
44
Systemic lupus erythematosus associated with Klinefelter's syndrome--a case report from the USSR. (1895282)
1991
45
Cardiac abnormalities in systemic lupus erythematosus. Association with raised anticardiolipin antibodies. (2372888)
1990
46
Protein-losing enteropathy in systemic lupus erythematosus associated with intestinal lymphangiectasia. (2220736)
1990
47
Systemic lupus erythematosus associated with refractory anemia with excess of blasts. (2307224)
1990
48
Thrombocytopenia in systemic lupus erythematosus: association with antiplatelet and anticardiolipin antibodies. (2340649)
1990
49
Maternal systemic lupus erythematosus associated with fetal congenital heart block. A case report. (7256481)
1981
50
Systemic lupus erythematosus associated with klinefelter's syndrome. (300022)
1977

Variations for Systemic Lupus Erythematosus, Association with

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UniProtKB/Swiss-Prot genetic disease variations for Systemic Lupus Erythematosus, Association with:

64
id Symbol AA change Variation ID SNP ID
1TREX1p.Arg169HisVAR_028319
2TREX1p.Ala213ValVAR_037949
3TREX1p.Gly282SerVAR_037950rs113107733
4TREX1p.Arg295SerVAR_037951rs72556555
5TREX1p.Ala302ProVAR_037952rs112741962
6TREX1p.Pro345LeuVAR_037954
7TREX1p.Tyr360CysVAR_037955
8TREX1p.Gly361AlaVAR_037956
9TREX1p.Asp255HisVAR_070901

Expression for genes affiliated with Systemic Lupus Erythematosus, Association with

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Expression patterns in normal tissues for genes affiliated with Systemic Lupus Erythematosus, Association with

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Pathways for genes affiliated with Systemic Lupus Erythematosus, Association with

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Pathways related to Systemic Lupus Erythematosus, Association with according to GeneCards/GeneDecks:

(show all 25)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3TLR9, TLR4
29.1TLR4, TLR2
39.1TLR2, TLR4
49.1TLR2, TLR4
5
Show member pathways
9.1TLR2, TLR4
6
Show member pathways
9.1TLR4, TLR2
79.1TLR2, TLR4
89.1TLR4, TLR2
9
Show member pathways
9.0TLR9, TLR2
10
Show member pathways
8.5TLR2, TLR9, TLR4
11
Show member pathways
8.5TLR4, TLR2, TLR9
128.5TLR4, TLR2, TLR9
13
Show member pathways
8.5TLR9, TLR2, TLR4
14
Show member pathways
8.5TLR2, TLR4, TLR9
15
Show member pathways
8.5TLR9, TLR2, TLR4
16
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
8.5TLR4, TLR2, TLR9
178.5TLR9, TLR2, TLR4
18
Show member pathways
8.5TLR2, TLR9, TLR4
19
Show member pathways
IL27-mediated signaling events37
8.5TLR9, TLR4, TLR2
208.5TLR9, TLR4, TLR2
218.5TLR9, TLR4, TLR2
22
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways60
Immune response IL 1 signaling pathway60
8.5TLR9, TLR4, TLR2
23
Show member pathways
8.5TLR9, TLR4, TLR2
24
Show member pathways
Toll-like receptor signaling pathway37
Regulation of toll-like receptor signaling pathway37
8.5TLR9, TLR4, TLR2
258.5TLR9, TLR4, TLR2

Compounds for genes affiliated with Systemic Lupus Erythematosus, Association with

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Compounds related to Systemic Lupus Erythematosus, Association with according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1chloroquine44 2 50 28 1113.5TLR9, TLR4
2arabinogalactan449.5TLR4, TLR2
3diaminopimelic acid449.5TLR4, TLR2
4pam2csk4619.5TLR2, TLR4
5pam3csk4619.5TLR2, TLR4
6poly(i:c)619.5TLR2, TLR4
7glucuronoxylomannan449.5TLR4, TLR2
8muramyl dipeptide44 2810.5TLR4, TLR2
9hbd2449.5TLR2, TLR4
10lauric acid44 2810.5TLR2, TLR4
11zymosan449.4TLR4, TLR2
12imiquimod44 61 28 1112.4TLR4, TLR2
13mannan449.4TLR2, TLR4
14docosahexaenoic acid44 28 2411.4TLR4, TLR2
15polymyxin b449.4TLR4, TLR2
16il 10449.4TLR2, TLR4
17glycolipid449.4TLR4, TLR2
18anti-fungal449.4TLR2, TLR4
19latex449.3TLR4, TLR2
20palmitate449.2TLR4, TLR2
21agarose449.2TLR2, TLR4
22simvastatin44 50 61 28 24 1114.1TLR4, TLR2
23calcitriol44 61 24 1112.1TLR4, TLR2
24mannose449.0TLR4, TLR2
25loxoribine44 289.9TLR9, TLR4, TLR2
26resiquimod44 619.9TLR2, TLR4, TLR9
27flagellin44 289.9TLR9, TLR4, TLR2
28lipoteichoic acid448.9TLR2, TLR4, TLR9
29polyinosinic-polycytidylic acid448.9TLR9, TLR4, TLR2
30poly(i-c)448.9TLR2, TLR4, TLR9
31peptidoglycan44 289.9TLR9, TLR4, TLR2
32ccl344 289.9TLR2, TLR4, TLR9
33endotoxin448.9TLR2, TLR4, TLR9
34rantes448.8TLR9, TLR4, TLR2
35tacrolimus44 50 1110.8TLR4, TLR2
36nitric oxide44 24 1110.7TLR2, TLR4, TLR9

GO Terms for genes affiliated with Systemic Lupus Erythematosus, Association with

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Cellular components related to Systemic Lupus Erythematosus, Association with according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098979.1TLR4, TLR2
2endosome membraneGO:0100089.0TLR9, TLR4

Biological processes related to Systemic Lupus Erythematosus, Association with according to GeneCards/GeneDecks:

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of interferon-beta biosynthetic processGO:0453599.6TLR4, TLR9
2negative regulation of interleukin-6 productionGO:0327159.6TLR9, TLR4
3defense response to Gram-negative bacteriumGO:0508299.6TLR4, TLR9
4positive regulation of JNK cascadeGO:0463309.5TLR4, TLR9
5cellular response to lipoteichoic acidGO:0712239.4TLR2, TLR4
6positive regulation of macrophage cytokine productionGO:0609079.4TLR2, TLR4
7negative regulation of interleukin-17 productionGO:0327009.4TLR4, TLR2
8positive regulation of tumor necrosis factor biosynthetic processGO:0425359.4TLR2, TLR4
9positive regulation of interleukin-18 productionGO:0327419.4TLR9, TLR2
10positive regulation of toll-like receptor signaling pathwayGO:0341239.4TLR9, TLR2
11lipopolysaccharide-mediated signaling pathwayGO:0316639.4TLR4, TLR2
12positive regulation of nitric oxide biosynthetic processGO:0454299.3TLR4, TLR2
13positive regulation of I-kappaB kinase/NF-kappaB signalingGO:0431239.3TLR9, TLR4
14toll-like receptor TLR1:TLR2 signaling pathwayGO:0381239.3TLR4, TLR2
15toll-like receptor TLR6:TLR2 signaling pathwayGO:0381249.2TLR4, TLR2
16toll-like receptor 2 signaling pathwayGO:0341349.2TLR2, TLR4
17toll-like receptor 4 signaling pathwayGO:0341429.0TLR2, TLR4
18defense response to bacteriumGO:0427429.0TLR9, TLR4
19I-kappaB phosphorylationGO:0072528.9TLR9, TLR2, TLR4
20positive regulation of nitric-oxide synthase biosynthetic processGO:0517708.9TLR2, TLR4, TLR9
21positive regulation of chemokine productionGO:0327228.9TLR9, TLR4, TLR2
22positive regulation of interleukin-10 productionGO:0327338.9TLR2, TLR4, TLR9
23positive regulation of NF-kappaB import into nucleusGO:0423468.9TLR9, TLR4, TLR2
24positive regulation of interleukin-8 productionGO:0327578.9TLR9, TLR4, TLR2
25positive regulation of interferon-beta productionGO:0327288.9TLR2, TLR4, TLR9
26positive regulation of interleukin-12 productionGO:0327358.9TLR9, TLR4, TLR2
27positive regulation of tumor necrosis factor productionGO:0327608.9TLR2, TLR4, TLR9
28positive regulation of interleukin-6 productionGO:0327558.9TLR9, TLR4, TLR2
29positive regulation of inflammatory responseGO:0507298.9TLR2, TLR4, TLR9
30MyD88-dependent toll-like receptor signaling pathwayGO:0027558.9TLR9, TLR4, TLR2
31toll-like receptor signaling pathwayGO:0022248.8TLR2, TLR4, TLR9
32positive regulation of NF-kappaB transcription factor activityGO:0510928.8TLR2, TLR4, TLR9
33positive regulation of transcription from RNA polymerase II promoterGO:0459448.5TLR9, TLR4, TLR2
34innate immune responseGO:0450878.3TREX1, TLR9, TLR4, TLR2

Molecular functions related to Systemic Lupus Erythematosus, Association with according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lipopolysaccharide receptor activityGO:0018758.8TLR4, TLR2
2transmembrane signaling receptor activityGO:0048888.5TLR9, TLR4, TLR2

Products for genes affiliated with Systemic Lupus Erythematosus, Association with

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Sources for Systemic Lupus Erythematosus, Association with

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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