SLEB9
MCID: SYS041
MIFTS: 19

Systemic Lupus Erythematosus 9 (SLEB9)

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

Aliases & Classifications for Systemic Lupus Erythematosus 9

MalaCards integrated aliases for Systemic Lupus Erythematosus 9:

Name: Systemic Lupus Erythematosus 9 56 73 29 6
Systemic Lupus Erythematosus, Susceptibility to, 9 56 13
Sleb9 56 73
Lupus Erythematosus, Systemic, Type 9 39

Classifications:



External Ids:

OMIM 56 610927
MeSH 43 D008180
MedGen 41 C1970455

Summaries for Systemic Lupus Erythematosus 9

UniProtKB/Swiss-Prot : 73 Systemic lupus erythematosus 9: 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 9, is also known as systemic lupus erythematosus, susceptibility to, 9. An important gene associated with Systemic Lupus Erythematosus 9 is CR2 (Complement C3d Receptor 2). Affiliated tissues include bone, skin and bone marrow.

More information from OMIM: 610927

Related Diseases for Systemic Lupus Erythematosus 9

Symptoms & Phenotypes for Systemic Lupus Erythematosus 9

Clinical features from OMIM:

610927

Drugs & Therapeutics for Systemic Lupus Erythematosus 9

Search Clinical Trials , NIH Clinical Center for Systemic Lupus Erythematosus 9

Genetic Tests for Systemic Lupus Erythematosus 9

Genetic tests related to Systemic Lupus Erythematosus 9:

# Genetic test Affiliating Genes
1 Systemic Lupus Erythematosus 9 29 CR2

Anatomical Context for Systemic Lupus Erythematosus 9

MalaCards organs/tissues related to Systemic Lupus Erythematosus 9:

40
Bone, Skin, Bone Marrow, Kidney

Publications for Systemic Lupus Erythematosus 9

Articles related to Systemic Lupus Erythematosus 9:

(showing 10, show less)
# Title Authors PMID Year
1
Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus. 56 6
17360460 2007
2
Mortality and long term survival prognostic factors of patients with systemic autoimmune diseases admitted to an intensive care unit: a retrospective study. 61
22338619 2012
3
Thrombocytopenic syndromes masquerading as childhood immune thrombocytopenic purpura. 61
21098529 2011
4
Amputation of digits or limbs in patients with antiphospholipid syndrome. 61
18206213 2008
5
Anti-Hepatitis C Virus Serology in Immune Thrombocytopenia: A Retrospective Analysis in 101 Patients. 61
27416534 1998
6
[Interstitial pneumonia associated with collagen vascular diseases: histological findings, and cells in bronchoalveolar lavage fluid]. 61
8752516 1995
7
Anti-glycosphingolipid autoantibodies in rheumatologic disorders. 61
7869176 1994
8
The association between sequential changes in serum antineuronal antibodies and neuropsychiatric systemic lupus erythematosus. 61
2608589 1989
9
Biological and clinical heterogeneity of lupus and lupus-like anticoagulant in fifty-seven patients. 61
3480933 1987
10
[Acute systemic lupus erythematosus after thymectomy for myasthenia. Sequential study of lymphocyte subpopulations]. 61
3797875 1986

Variations for Systemic Lupus Erythematosus 9

ClinVar genetic disease variations for Systemic Lupus Erythematosus 9:

6 (showing 5, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CR2 NM_001006658.2(CR2):c.1210C>G (p.Pro404Ala)SNV Uncertain significance 578201 rs148388565 1:207643432-207643432 1:207470087-207470087
2 CR2 NM_001877.5(CR2):c.1979-205C>TSNV Uncertain significance 626091 rs142648420 1:207646941-207646941 1:207473596-207473596
3 CR2 NM_001877.5(CR2):c.1916G>A (p.Ser639Asn)SNV Benign 402559 rs17615 1:207646462-207646462 1:207473117-207473117
4 CR2 NM_001877.5(CR2):c.1776G>A (p.Leu592=)SNV Benign 402558 rs1048971 1:207646322-207646322 1:207472977-207472977
5 CR2 NM_001877.5(CR2):c.-71T>CSNV no interpretation for the single variant 478828 rs3813946 1:207627693-207627693 1:207454348-207454348

Expression for Systemic Lupus Erythematosus 9

Search GEO for disease gene expression data for Systemic Lupus Erythematosus 9.

Pathways for Systemic Lupus Erythematosus 9

GO Terms for Systemic Lupus Erythematosus 9

Sources for Systemic Lupus Erythematosus 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....