MCID: SYS041
MIFTS: 15

Systemic Lupus Erythematosus 9

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

Aliases & Classifications for Systemic Lupus Erythematosus 9

MalaCards integrated aliases for Systemic Lupus Erythematosus 9:

Name: Systemic Lupus Erythematosus 9 57 75 29 6
Systemic Lupus Erythematosus, Susceptibility to, 9 57 13
Sleb9 57 75
Lupus Erythematosus, Systemic, Type 9 40

Classifications:



External Ids:

OMIM 57 610927
MedGen 42 C1970455
MeSH 44 D008180

Summaries for Systemic Lupus Erythematosus 9

UniProtKB/Swiss-Prot : 75 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.

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 29 CR2

Anatomical Context for Systemic Lupus Erythematosus 9

MalaCards organs/tissues related to Systemic Lupus Erythematosus 9:

41
Skin, Kidney, Bone, Bone Marrow

Publications for Systemic Lupus Erythematosus 9

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

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 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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