MCID: SYS065
MIFTS: 14

Systemic Lupus Erythematosus 11

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

Aliases & Classifications for Systemic Lupus Erythematosus 11

MalaCards integrated aliases for Systemic Lupus Erythematosus 11:

Name: Systemic Lupus Erythematosus 11 53 71
Sleb11 53 71
Systemic Lupus Erythematosus, Susceptibility to, 11 53

Classifications:



External Ids:

OMIM 53 612253
MedGen 39 C2677096
MeSH 41 D008180

Summaries for Systemic Lupus Erythematosus 11

UniProtKB/Swiss-Prot : 71 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.

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:

38
Skin, Kidney, Bone, Bone Marrow

Publications for Systemic Lupus Erythematosus 11

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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
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53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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