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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 Meningioma
Alias:
Pediatric Meningioma
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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
儿童脑膜瘤,也称为儿童脑膜瘤,与纤维性脑膜瘤和脑癌有关。与儿童脑膜瘤有关的重要基因是NF2(NF2,Moesin-Ezrin-Radixin Like(MERLIN)肿瘤抑制因子),其相关通路/超通路包括转录配体依赖性激活的ESR1/SP通路和RUNX1与尚不清楚其精确效果的共因子相互作用。在该疾病的背景下提到了药物Vorinostat和Bortezomib。附属组织包括淋巴结,相关表型为增殖增加和肿瘤
Related ID:
MALACARDS:CHL167
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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7
71
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CHL167
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
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IF
No Data Found!
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