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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
Aortic Aneurysm, Familial Thoracic 7 (AAT7)
Alias:
Aat7
Aortic Dissection, Familial, with or Without Aortic Aneurysm
Aortic Dissection Familial with or Without Aortic Aneurysm
Aneurysm, Aortic, Thoracic, Familial, Type 7
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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
胸主动脉瘤,家族性7号染色体,也被称为aat7。与胸主动脉瘤,家族性7号染色体相关的基因是MYLK(肌球蛋白轻链激酶)。相关组织包括平滑肌和动脉-主动脉,相关表型包括升主动脉破裂和主动脉破裂。
Related ID:
MALACARDS:ART105
OMIM:613780
MESH:D017545
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
8
10
ART105
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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