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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
Acute Necrotizing Encephalitis (ANE1)
Alias:
Postinfectious Acute Necrotizing Hemorrhagic Encephalopathy
Susceptibility to Infection-Induced Acute Encephalopathy
Susceptibility to Acute Necrotizing Encephalopathy 1
Autosomal Dominant Acute Necrotizing Encephalopathy
Susceptibility to Acute Necrotizing Encephalopathy
Encephalopathy, Acute, Infection-Induced
Acute Necrotizing Encephalopathy Type 1
Encephalitis, Acute Necrotizing
Adane
Iiae3
Ane1
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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
急性坏死性脑炎,又称感染后急性坏死性出血性脑炎,与脑炎和颅内高压有关。急性坏死性脑炎相关的重要基因是RANBP2(RAN结合蛋白2),其相关通路/超级通路包括Nrf2对SARS-CoV-2的抗病毒和抗炎作用通路和COVID-19不良结局通路。相关组织包括大脑和颞叶,相关表型包括hepcidin::fluc mRNA表达增加和生长/大小/身体部位。
Related ID:
MALACARDS:ACT064
MESH:D004684
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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10
115
13
ACT064
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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