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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
Cellular Schwannoma
Alias:
Cellular Neurinoma
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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
细胞神经鞘瘤,又称细胞神经瘤,与恶性周围神经鞘瘤和神经纤维瘤病有关。与细胞神经鞘瘤有关的重要基因是SMARCB1(SWI/SNF相关,矩阵相关,肌动蛋白依赖性染色质调节因子,亚家族B,成员1)。附属组织包括三叉神经节和肾上腺,相关表型为增殖增加和肿瘤。
Related ID:
MALACARDS:CLL001
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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11
93
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CLL001
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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