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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
Neurofibroma
Alias:
Neurofibromas
Nerve Sheath Tumors
Neurofibromatoses
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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
神经纤维瘤,又称神经鞘瘤,与上皮样神经纤维瘤和细胞神经纤维瘤有关,症状包括背痛、头痛和疼痛。与神经纤维瘤有关的重要基因是NF1(神经纤维蛋白1),其相关通路/超级通路包括传染病和ERK信号通路。在该疾病的背景下提到了药物格利帕罗酮和一氧化氮。附属组织包括皮肤和气管,相关表型为神经纤维瘤和丛状神经纤维瘤。
Related ID:
MALACARDS:NRF007
MESH:D009455
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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44
1085
2
NRF007
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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
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IF
No Data Found!
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