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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 6 Deficiency (C6D)
Alias:
C6 Deficiency
C6d
Complement Component 6 Deficiency Subtotal
C6 Deficiency, Subtotal
C6 Deficiency Subtotal
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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6缺乏症,也称为c6缺乏症,与脑膜炎和布鲁氏菌病有关。与补体成分6缺乏症相关的基因是C6(补体C6),其相关通路/超通路包括先天免疫系统和免疫系统中的细胞因子信号通路。附属组织包括脊髓和中性粒细胞,相关表型为溶血性补体活性降低和循环补体c6浓度降低。
Related ID:
MALACARDS:CMP089
OMIM:612446
MESH:C567307
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
7
61
24
CMP089
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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