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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 2 (EIG2)
Alias:
Epilepsy, Idiopathic Generalized, Susceptibility to, 2
Idiopathic Generalized Epilepsy 2
Eig2
Epilepsy, Idiopathic Generalized, Susceptibility to, Locus on Chromosome 14
Epilepsy, Idiopathic Generalized Locus on Chromosome 14
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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,特发性全身性2型,也称为癫痫,特发性全身性,易感性2型,与中位神经病变和由于透明带缺陷导致的女性不育有关。与癫痫,特发性全身性2型相关的基因是EIG2(癫痫,特发性全身性,易感性2型),其相关通路/超通路包括HCMV感染和减数分裂。相关表型包括shRNA丰度增加(Z分数>2)和胰腺谱系的存活率降低。
Related ID:
MALACARDS:EPL092
OMIM:606972
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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19
168
1
EPL092
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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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
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IF
No Data Found!
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