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 58 76 6
Sleb11 58 76
Systemic Lupus Erythematosus, Susceptibility to, 11 58
Lupus Erythematosus, Systemic, Type 11 41

Classifications:



External Ids:

OMIM 58 612253
MeSH 45 D008180
MedGen 43 C2677096

Summaries for Systemic Lupus Erythematosus 11

UniProtKB/Swiss-Prot : 76 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 skin, kidney and bone marrow.

Description from OMIM: 612253

Related Diseases for Systemic Lupus Erythematosus 11

Symptoms & Phenotypes for Systemic Lupus Erythematosus 11

Clinical features from OMIM:

612253

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

Anatomical Context for Systemic Lupus Erythematosus 11

MalaCards organs/tissues related to Systemic Lupus Erythematosus 11:

42
Skin, Kidney, Bone Marrow

Publications for Systemic Lupus Erythematosus 11

Articles related to Systemic Lupus Erythematosus 11:

# Title Authors Year
1
Cutting edge: autoimmune disease risk variant of STAT4 confers increased sensitivity to IFN-alpha in lupus patients in vivo. ( 19109131 )
2009
2
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. ( 19838193 )
2009
3
A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. ( 19838195 )
2009
4
STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. ( 17804842 )
2007

Variations for Systemic Lupus Erythematosus 11

ClinVar genetic disease variations for Systemic Lupus Erythematosus 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 STAT4 NM_003151.3(STAT4): c.274-23582A= single nucleotide variant risk factor rs7574865 GRCh37 Chromosome 2, 191964633: 191964633
2 STAT4 NM_003151.3(STAT4): c.274-23582A= single nucleotide variant risk factor rs7574865 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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