SLEB11
MCID: SYS065
MIFTS: 17

Systemic Lupus Erythematosus 11 (SLEB11)

Categories: Bone diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Systemic Lupus Erythematosus 11

MalaCards integrated aliases for Systemic Lupus Erythematosus 11:

Name: Systemic Lupus Erythematosus 11 57 72 29 6
Sleb11 57 72
Systemic Lupus Erythematosus, Susceptibility to, 11 57
Lupus Erythematosus, Systemic, Type 11 39

Classifications:



External Ids:

OMIM® 57 612253
MeSH 44 D008180
MedGen 41 C2677096

Summaries for Systemic Lupus Erythematosus 11

UniProtKB/Swiss-Prot : 72 Systemic lupus erythematosus 11: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.

MalaCards based summary : Systemic Lupus Erythematosus 11, is also known as sleb11. An important gene associated with Systemic Lupus Erythematosus 11 is STAT4 (Signal Transducer And Activator Of Transcription 4). Affiliated tissues include bone marrow and neutrophil.

More information from OMIM: 612253

Related Diseases for Systemic Lupus Erythematosus 11

Symptoms & Phenotypes for Systemic Lupus Erythematosus 11

Clinical features from OMIM®:

612253 (Updated 20-May-2021)

Drugs & Therapeutics for Systemic Lupus Erythematosus 11

Search Clinical Trials , NIH Clinical Center for Systemic Lupus Erythematosus 11

Genetic Tests for Systemic Lupus Erythematosus 11

Genetic tests related to Systemic Lupus Erythematosus 11:

# Genetic test Affiliating Genes
1 Systemic Lupus Erythematosus 11 29 STAT4

Anatomical Context for Systemic Lupus Erythematosus 11

MalaCards organs/tissues related to Systemic Lupus Erythematosus 11:

40
Bone Marrow, Neutrophil

Publications for Systemic Lupus Erythematosus 11

Articles related to Systemic Lupus Erythematosus 11:

(show all 13)
# Title Authors PMID Year
1
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. 57 6
19838193 2009
2
A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. 57 6
19838195 2009
3
Cutting edge: autoimmune disease risk variant of STAT4 confers increased sensitivity to IFN-alpha in lupus patients in vivo. 6 57
19109131 2009
4
STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. 6 57
17804842 2007
5
Genome scan of human systemic lupus erythematosus by regression modeling: evidence of linkage and epistasis at 4p16-15.2. 57
11078476 2000
6
Genome scan of human systemic lupus erythematosus: evidence for linkage on chromosome 1q in African-American pedigrees. 57
9843982 1998
7
Long-term efficacy and safety of rituximab in refractory and relapsing systemic lupus erythematosus. 61
20466686 2010
8
[Vaccination against yellow fever among patients on immunosuppressors with diagnoses of rheumatic diseases]. 61
19287931 2009
9
Characterization of elevated neutrophil-associated IgG in various autoimmune disorders: not anti-neutrophil autoantibodies, but possibly immune complexes, bind to neutrophils. 61
9550287 1997
10
Acute familial myositis with a common autoimmune response. 61
2053920 1991
11
Human adjuvant disease: remission of silicone induced autoimmune disease after explanation of breast augmentation. 61
2256743 1990
12
Antiribosomal S10 antibodies in humans and MRL/lpr mice with systemic lupus erythematosus. 61
2478135 1989
13
Correlation of the activation of the fourth component of complement (C4) with disease activity in systemic lupus erythematosus. 61
3264693 1988

Variations for Systemic Lupus Erythematosus 11

ClinVar genetic disease variations for Systemic Lupus Erythematosus 11:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STAT4 NM_003151.4(STAT4):c.274-23582= SNV risk factor 31932 rs7574865 GRCh37: 2:191964633-191964633
GRCh38: 2:191099907-191099907

Expression for Systemic Lupus Erythematosus 11

Search GEO for disease gene expression data for Systemic Lupus Erythematosus 11.

Pathways for Systemic Lupus Erythematosus 11

GO Terms for Systemic Lupus Erythematosus 11

Sources for Systemic Lupus Erythematosus 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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