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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
Gliomatosis Cerebri
Alias:
Neoplasms, Neuroepithelial
Astrocytosis Cerebri
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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
脑胶质瘤病,又称神经上皮瘤,与胶质瘤易感性1和寡星细胞瘤有关,症状包括头痛、癫痫发作和感觉表现。与脑胶质瘤病相关的重要基因是GFAP(胶质纤维酸性蛋白),其相关通路/超通路包括信号转导和传染病。在该疾病的背景下,已提到的药物有替莫唑胺和丙戊酸。附属组织包括大脑和脊髓,相关表型为肿瘤和胚胎
Related ID:
MALACARDS:GLM004
MESH:D018302
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
成年期
<1/1000000
14
295
--
GLM004
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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