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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 Malignant Schwannoma
Alias:
Childhood Neurofibrosarcoma
Pediatric Mpnst
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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
儿童恶性施万细胞瘤,也称为儿童神经纤维肉瘤,与成人恶性施万细胞瘤和上皮样恶性周围神经鞘瘤有关。与儿童恶性施万细胞瘤有关的重要基因是NF1(神经纤维蛋白1)。在该疾病的背景下提到了Ifosfamide和Doxorubicin这两种药物。相关的表型是肝脏/胆道系统和细胞。
Related ID:
MALACARDS:CHL033
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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7
65
--
CHL033
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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