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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
Anaplastic Astrocytoma
Alias:
Astrocytoma, Anaplastic
Grade Iii Astrocytic Tumor
Grade Iii 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
星形细胞瘤,也称为星形细胞瘤,是一种与IDH突变型星形细胞瘤和IDH野生型星形细胞瘤相关的疾病,症状包括头痛、癫痫发作和运动表现。与星形细胞瘤相关的基因包括TP53(肿瘤蛋白P53),其相关通路/超级通路包括ERK信号通路和信号转导。在该疾病的背景下,已经提到了Trametinib和Dabrafenib这两种药物。相关组织包括大脑和脊髓,相关表型包括乳腺干细胞形成减少和胰腺细胞存活率降低。
Related ID:
MALACARDS:ANP005
MESH:D001254
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
成年期
1-9/1000000
65
894
--
ANP005
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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