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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
Asperger Syndrome
Alias:
Asperger Syndrome, Susceptibility to
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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
阿斯伯格综合症,也称为阿斯伯格综合症,易感性,与自闭症谱系障碍和非典型自闭症有关。与阿斯伯格综合症相关的重要基因是ASPG2(阿斯伯格综合症,易感性,2),其相关通路/超级通路包括化学突触间的传递和嗅上皮的神经发生调节。在该疾病的背景下提到了药物Atomoxetine和Risperidone。附属组织包括大脑和杏仁核,相关表型是神经系统和正常。
Related ID:
MALACARDS:ASP001
MESH:D020817
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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55
708
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ASP001
Medical Symptom
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Description
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Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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
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IF
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