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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
Autism Spectrum Disorder (ASD)
Alias:
Autism Spectrum Disorders
Pervasive Developmental Disorder, Not Otherwise Specified
Autistic Disorder of Childhood Onset
Pervasive Developmental Delay Nos
Pervasive Developmental Disorder
Pervasive Development Disorder
Autistic Continuum
Autistic Disorder
Autistic Behavior
Childhood Autism
Infantile Autism
Kanner Syndrome
Autistic
Asd
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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
自闭症谱系障碍,也称为广泛性发育障碍,未分类,与自闭症和注意力缺陷多动障碍有关,症状包括社交互动的广泛异常,严重受限的兴趣和高度重复的行为。与自闭症谱系障碍有关的重要基因是SHANK2(SH3和多个ANKYRIN重复域2),其相关通路/超级通路包括神经科学和导致雷特综合症的基因。在该障碍的背景下提到了药物阿立哌唑和托莫西汀。附属组织包括大脑和眼睛,相关表型是Aire报告基因表达减少和抵抗痘苗病毒(VACV-A4L)感染。
Related ID:
MALACARDS:ATS007
MESH:D000067877
ICD11:120443468
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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569
5021
29
ATS007
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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