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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
Brown-Vialetto-Van Laere 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
棕色-维拉托-范拉尔综合征与棕色-维拉托-范拉尔综合征2和棕色-维拉托-范拉尔综合征1有关,症状包括呼吸困难、肌肉抽搐和喘息。与棕色-维拉托-范拉尔综合征有关的重要基因是SLC52A3(溶质载体家族52成员3),其相关通路/超级通路包括代谢和水溶性维生素和辅因子的代谢。
Related ID:
MALACARDS:BRW001
MESH:C537111
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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20
86
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BRW001
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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