SLEB9
MCID: SYS041
MIFTS: 16

Systemic Lupus Erythematosus 9 (SLEB9)

Categories: 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 58 76 30 6
Systemic Lupus Erythematosus, Susceptibility to, 9 58 13
Sleb9 58 76
Lupus Erythematosus, Systemic, Type 9 41

Classifications:



External Ids:

OMIM 58 610927
MeSH 45 D008180
MedGen 43 C1970455

Summaries for Systemic Lupus Erythematosus 9

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

Description 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 30 CR2

Anatomical Context for Systemic Lupus Erythematosus 9

MalaCards organs/tissues related to Systemic Lupus Erythematosus 9:

42
Skin, Kidney, Bone Marrow

Publications for Systemic Lupus Erythematosus 9

Articles related to Systemic Lupus Erythematosus 9:

# Title Authors Year
1
Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus. ( 17360460 )
2007

Variations for Systemic Lupus Erythematosus 9

ClinVar genetic disease variations for Systemic Lupus Erythematosus 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CR2 NM_001006658.2(CR2): c.1916G> A (p.Ser639Asn) single nucleotide variant Benign rs17615 GRCh38 Chromosome 1, 207473117: 207473117
2 CR2 NM_001006658.2(CR2): c.1916G> A (p.Ser639Asn) single nucleotide variant Benign rs17615 GRCh37 Chromosome 1, 207646462: 207646462
3 CR2 NM_001006658.2(CR2): c.1776G> A (p.Leu592=) single nucleotide variant Benign rs1048971 GRCh38 Chromosome 1, 207472977: 207472977
4 CR2 NM_001006658.2(CR2): c.1776G> A (p.Leu592=) single nucleotide variant Benign rs1048971 GRCh37 Chromosome 1, 207646322: 207646322
5 CR2 NM_001006658.2(CR2): c.-71T> C single nucleotide variant no interpretation for the single variant rs3813946 GRCh38 Chromosome 1, 207454348: 207454348
6 CR2 NM_001006658.2(CR2): c.-71T> C single nucleotide variant no interpretation for the single variant rs3813946 GRCh37 Chromosome 1, 207627693: 207627693
7 CR2 NM_001006658.2(CR2): c.1210C> G (p.Pro404Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 207643432: 207643432
8 CR2 NM_001006658.2(CR2): c.1210C> G (p.Pro404Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 207470087: 207470087
9 CR2 NM_001006658.2(CR2): c.2030C> T (p.Thr677Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 207646941: 207646941
10 CR2 NM_001006658.2(CR2): c.2030C> T (p.Thr677Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 207473596: 207473596

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
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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