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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 Oligodendroglioma
Alias:
Oligodendroglioma, Childhood
Pediatric Oligodendroglioma
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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
儿童少突胶质瘤,也称为儿童少突胶质瘤,与胶质瘤易感性1和星形细胞瘤有关,症状包括头痛和癫痫发作。与儿童少突胶质瘤相关的重要基因是KIAA1549(KIAA1549),其相关通路/超级通路包括染色质调节/乙酰化和 vemurafenib 通路,药理动力学。在该疾病的背景下,已提及了 Trametinib 和 Dabrafenib 这两种药物。附属组织包括大脑和脊髓,相关表型为 shRNA 富集增加(Z-score > 2)和行为/神经系统。
Related ID:
MALACARDS:CHL006
MESH:D009837
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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12
169
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CHL006
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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