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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
Central Nervous System Mature Teratoma
Alias:
Mature Teratoma of the Cns
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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
中枢神经系统成熟畸胎瘤,又称中枢神经系统成熟畸胎瘤,与儿童中枢神经系统成熟畸胎瘤和成人中枢神经系统成熟畸胎瘤有关。与中枢神经系统成熟畸胎瘤相关的重要基因是SETD1A(SET域包含1A,组蛋白赖氨酸甲基转移酶)。附属组织包括中枢神经系统,相关表型为对电离辐射敏感性增加。
Related ID:
MALACARDS:CNT040
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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2
19
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CNT040
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
Title
PMID
Journal
Year
IF
No Data Found!
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