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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
Rela Fusion-Positive Ependymoma
Alias:
Supratentorial C11orf95-Rela Fused Ependymoma
C11orf95 Fusion-Positive Supratentorial Ependymoma
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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
Rela融合阳性脑膜瘤,又称C11orf95-Rela融合脑膜瘤,与脑膜瘤和星形细胞瘤有关。Rela融合阳性脑膜瘤相关的重要基因是ZFTA(锌指易位相关基因),其相关通路/超级通路包括神经系统发育和少突胶质细胞特化和分化,导致中枢神经系统的髓质成分。附属组织包括大脑,相关表型包括POU5F1-GFP蛋白表达减少和骨骼
Related ID:
MALACARDS:RLF001
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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婴儿期
--
17
165
--
RLF001
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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