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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
Familial Thoracic Aortic Aneurysm and Aortic Dissection
Alias:
Familial Non-Syndromic Thoracic Aortic Aneurysm and Aortic Dissection
Familial Taad
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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
家族性胸主动脉瘤和主动脉破裂,也称为家族性非综合征性胸主动脉瘤和主动脉破裂,与家族性胸主动脉瘤和破裂以及微小结肠有关。与家族性胸主动脉瘤和主动脉破裂有关的重要基因是ACTA2(平滑肌α2肌动蛋白),其相关通路/超级通路包括信号转导和ERK信号通路。附属组织包括心脏和骨骼,相关表型包括鱼鳞病和结缔组织异常。
Related ID:
MALACARDS:FML364
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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32
523
780
FML364
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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
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No Data Found!
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