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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
Plexiform Neurofibroma
Alias:
Neurofibroma, Plexiform
Neurofibroma Plexiform
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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
丛状神经纤维瘤,又称丛状神经纤维瘤,与神经纤维瘤和恶性周围神经鞘瘤有关。与丛状神经纤维瘤有关的重要基因是CDKN2B-AS1(CDKN2B反义RNA1),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达拉非尼和长春花碱。附属组织包括唾液腺和背根神经节,相关表型为活力降低和shRNA丰度增加(Z分数>2)。
Related ID:
MALACARDS:PLX002
MESH:D018318
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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22
594
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PLX002
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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