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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 Fibrosarcoma
Alias:
Pediatric Fibrosarcoma
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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
儿童纤维肉瘤,也称为儿童纤维肉瘤,与皮肤纤维肉瘤和纤维肉瘤有关。与儿童纤维肉瘤有关的重要基因是NTRK3(神经生长因子受体酪氨酸激酶3),其相关通路/超级通路包括G蛋白偶联受体通路和RAF/MAP激酶级联反应。在该疾病的背景下提到了Ifosfamide和Doxorubicin这两种药物。相关表型是活力降低和有丝分裂指数增加。
Related ID:
MALACARDS:CHL164
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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21
290
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CHL164
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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No Data Found!
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