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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
Autoinflammatory Syndrome
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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
自身炎症综合症与家族性冷自身炎症综合症1和家族性冷自身炎症综合症4有关。与自身炎症综合症有关的重要基因是NLRP3(NLR家族Pyrin域包含3),其相关通路/超级通路包括先天免疫系统和炎症小体。在该疾病的背景下提到了利洛那塞普特和免疫球蛋白。附属组织包括骨和乳腺,相关表型为稳态/代谢和免疫系统。
Related ID:
MALACARDS:ATN021
ICD11:2115467890
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
20
225
--
ATN021
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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