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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Systemic Lupus Erythematosus (SLE)
Alias:
Lupus Nephritis
Sle
Disseminated Lupus Erythematosus
Lupus Erythematosus, Systemic
Systemic Lupus Erythematosus, Susceptibility to
Lupus Nephritis, Susceptibility to
Libman-Sacks Disease
Lupus Erythematosus, Systemic, Susceptibility to
Systemic Lupus Erythematosus Susceptibility to
Sle - [systemic Lupus Erythematosus]
Sle - Lupus Erythematosus, Systemic
Systemic Lupus Erythematosus Nos
Lupus Erythematosus Systemic
Lupus Erythematosus, Discoid
Lupus Erythematosus
Lupus Vulgaris
Le Syndrome
Lupus
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
系统性红斑狼疮,又称为狼疮性肾炎,与红斑狼疮和自身免疫病有关,症状包括皮疹、瘙痒和类似狼疮的皮疹。与系统性红斑狼疮相关的基因是TREX1(三重修复外切酶1),其相关通路/超级通路包括先天免疫系统和NF-κB信号通路。在该疾病的背景下提到了青蒿琥酯和磺胺甲恶唑。附属组织包括脐带、骨髓和皮肤,相关表型为蛋白尿和抗核抗体阳性。
Related ID:
MALACARDS:SYS001
OMIM:152700
MESH:D008180
ICD11:749596428
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
1-5/10000
385
4384
197
SYS001
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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