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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
罕见病
Intraneural Perineurioma
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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
Intraneural Perineurioma与perineurioma和neurilemmoma有关。与Intraneural Perineurioma相关的基因是TRAF7(TNF Receptor Associated Factor 7),其相关通路/超通路包括血脑屏障和免疫细胞迁移:概述。附属组织包括舌和结肠,相关表型是shRNA丰度增加(Z-score > 2)。
Related ID:
MALACARDS:INT004
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
74
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INT004
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
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References Literature
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Journal
Year
IF
No Data Found!
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