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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
Basilar Artery Occlusion
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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
基底动脉闭塞与出血、脑内和椎基底动脉供血不足有关。与基底动脉闭塞有关的重要基因是PLAT(组织型纤溶酶原激活剂),其相关通路/超级通路包括细胞质钙离子升高的反应和补体通路。在该疾病的背景下提到了米诺环素和抗菌药物。相关组织包括大脑和脑桥,相关表型为稳态/代谢和细胞。
Related ID:
MALACARDS:BSL004
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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9
74
--
BSL004
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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