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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
Childhood Astrocytic Tumor
Alias:
Juvenile Astrocytoma
Pediatric Astrocytoma
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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
儿童星形细胞瘤,又称幼年星形细胞瘤,与胶质瘤易感性1和幼年毛细胞星形细胞瘤有关。与儿童星形细胞瘤相关的重要基因是KIAA1549(KIAA1549),其相关通路/超级通路包括传染病和4-1BB通路。附属组织包括大脑和小脑,相关表型包括减少的乳头状体形成和肾/尿系统。
Related ID:
MALACARDS:CHL162
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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16
337
--
CHL162
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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