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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
Complement Component 5 Deficiency (C5D)
Alias:
C5 Deficiency
C5d
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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
补体成分5缺乏症,也称为c5缺乏症,与脑膜炎和疟疾有关。与补体成分5缺乏症相关的基因是C5(补体C5),其相关通路/超级通路包括先天性免疫系统和G蛋白偶联受体下游信号转导。附属组织包括全血和T细胞,相关表型包括复发性脑膜炎球菌病和溶血性补体活性降低。
Related ID:
MALACARDS:CMP007
OMIM:609536
MESH:C537005
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
15
113
15
CMP007
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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