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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
Epilepsy, Early-Onset, 3, with or Without Developmental Delay (EPEO3)
Alias:
Epeo3
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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
癫痫,早发,3型,伴有或不伴有发育延迟,也称为epeo3,与早发癫痫3型有关。与癫痫,早发,3型,伴有或不伴有发育延迟有关的重要基因是ATP6V0C(ATPase H+ Transporting V0 Subunit C)。相关组织包括大脑。
Related ID:
MALACARDS:EPL267
OMIM:620465
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
5
5
EPL267
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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