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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, Idiopathic Generalized 13 (EIG13)
Alias:
Epilepsy, Childhood Absence 4
Epilepsy, Idiopathic Generalized, Susceptibility to, 13
Eig13
Epilepsy, Childhood Absence, Susceptibility to, 4
Idiopathic Generalized Epilepsy 13
Epilepsy, Idiopathic, Generalized, Susceptibility to, Type 13
Epilepsy, Juvenile Myoclonic, Susceptibility to, 5
Susceptibility to Juvenile Myoclonic Epilepsy 5
Epilepsy, Juvenile Myoclonic 5
Juvenile Myoclonic Epilepsy 5
Eca4
Ejm5
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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,特发性全面性13型,又称癫痫,儿童失神发作4型,与心境障碍和安格曼综合症有关。与癫痫,特发性全面性13型相关的基因是GABRA1(伽马氨基丁酸A受体亚基α1)。相关组织包括大脑,相关表型是生殖系统。
Related ID:
MALACARDS:EPL205
OMIM:611136
MESH:D004829
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
4
45
17
EPL205
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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