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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
Brugada Syndrome 1 (BRGDA1)
Alias:
Brgda1
Sudden Unexplained Nocturnal Death Syndrome
Right Bundle Branch Block, St Segment Elevation, and Sudden Death Syndrome
Brugada Syndrome, Type 1
Brugada Syndrome
Sunds
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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
Brugada Syndrome 1,也被称为brgda1,与Brugada Syndrome 4和Brugada Syndrome 2有关。与Brugada Syndrome 1有关的重要基因是SCN5A(钠电压门控通道α亚基5),其相关通路/超通路包括心脏传导和L1CAM相互作用。在该疾病的背景下,Procainamide和Flecainide已被提及。相关组织包括心脏和骨骼肌,相关表型为晕厥和室颤。
Related ID:
MALACARDS:BRG005
OMIM:601144
MESH:D053840
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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15
158
333
BRG005
Medical Symptom
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No data available
Gene & Mutation
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MGI
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Publications
No data available
References Literature
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No Data Found!
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