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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
非罕见病
Complement Component 9 Deficiency (C9D)
Alias:
C9 Deficiency
C9d
C9 Deficiency with Dermatomyositis
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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9缺乏症,也称为c9缺乏症,与补体缺乏症和脑膜炎球菌性脑膜炎有关。与补体成分9缺乏症相关的基因是C9(补体C9),其相关通路/超通路包括IL-9信号通路和脊髓损伤。附属组织包括骨骼肌,相关表型为循环补体c9浓度降低和shRNA丰度增加(Z-score>2)。
Related ID:
MALACARDS:CMP060
OMIM:613825
MESH:D007154
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
3
30
16
CMP060
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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