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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
Mesenchymal Cell Neoplasm
Alias:
Benign Miscellaneous Mesenchymal Tumor
Mesenchymal Tumors
Mesenchymal Tumor
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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
间充质细胞瘤,又称为良性杂类间充质肿瘤,与恶性间充质瘤和子宫平滑肌肉瘤有关。间充质细胞瘤相关的重要基因是KIT(KIT原癌基因,受体酪氨酸激酶),其相关通路/超级通路包括信号转导和RAF/MAP激酶级联反应。在该疾病的背景下提到了卡铂和多柔比星。附属组织包括骨和平滑肌,相关表型为肿瘤和肾/尿系统。
Related ID:
MALACARDS:MSN004
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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38
634
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MSN004
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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