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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
Perineurioma
Alias:
Soft Tissue 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
Perineurioma,又称软组织神经周细胞瘤,与神经内神经周细胞瘤和颗粒细胞瘤有关。与Perineurioma相关的基因是SLC2A1(溶质载体家族2成员1),其相关通路/超级通路包括细胞骨架信号通路和结直肠癌中的上皮-间质转化。附属组织包括结肠和舌,相关表型包括减少的乳头状体形成和稳态/新陈代谢。
Related ID:
MALACARDS:PRN022
MESH:D018317
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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13
223
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PRN022
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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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Year
IF
No Data Found!
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