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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
Spinal Cord Primitive Neuroectodermal Neoplasm
Alias:
Spinal Cord Primitive Neuroectodermal Tumor
Spinal Cord Pnet
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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
脊髓原始神经外胚层肿瘤,又名脊髓原始神经外胚层瘤,与后麻痹性脊髓炎和闭锁综合症有关。与脊髓原始神经外胚层肿瘤相关的重要基因是ZFYVE27(锌指FYVE型含27),其相关通路/超级通路包括已验证的核雌激素受体α网络和16p11.2远端缺失综合症。附属组织包括脊髓和大脑。
Related ID:
MALACARDS:SPN045
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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9
88
--
SPN045
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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