MCID: SYS065
MIFTS: 14

Systemic Lupus Erythematosus 11

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

Aliases & Classifications for Systemic Lupus Erythematosus 11

MalaCards integrated aliases for Systemic Lupus Erythematosus 11:

Name: Systemic Lupus Erythematosus 11 57 75 6
Sleb11 57 75
Systemic Lupus Erythematosus, Susceptibility to, 11 57
Lupus Erythematosus, Systemic, Type 11 40

Classifications:



External Ids:

OMIM 57 612253
MedGen 42 C2677096
MeSH 44 D008180

Summaries for Systemic Lupus Erythematosus 11

UniProtKB/Swiss-Prot : 75 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:

41
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
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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