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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
Ganglioglioma
Alias:
Childhood Ganglioglioma
Adult Ganglioglioma
Cns Ganglioglioma
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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
星形细胞瘤,又称为儿童星形细胞瘤,与星形细胞瘤和胶质瘤有关,症状包括癫痫发作。与星形细胞瘤相关的重要基因是BRAF(B-Raf原癌基因,丝氨酸/苏氨酸激酶),其相关通路/超级通路包括信号转导和催乳素信号通路。在该疾病的背景下,已提到的药物包括Trametinib和Dabrafenib。附属组织包括颞叶和大脑,相关表型包括WNT3A刺激后Wnt/beta-catenin通路的上调和胰腺谱系的活力降低。
Related ID:
MALACARDS:GNG004
MESH:D018303
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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25
492
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GNG004
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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