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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 3 (EIG3)
Alias:
Idiopathic Generalized Epilepsy 3
Eig3
Epilepsy, Idiopathic Generalized, Susceptibility to, Locus on Chromosome 9
Epilepsy, Idiopathic Generalized, Susceptibility to, 3
Epilepsy, Idiopathic Generalized Locus on Chromosome 9
Epilepsy, Idiopathic Generalized, Susceptibility to 3
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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3型,也称为特发性全身性癫痫3型,与雌激素受体阴性乳腺癌和乳腺导管癌有关。与癫痫,特发性全身性3型相关的基因是EIG3(癫痫,特发性全身性,易感性3),其相关通路/超通路包括检查点调节中的Chks和有丝分裂G1期和G1/S转换。相关表型为癫痫发作和皮肤光敏感。
Related ID:
MALACARDS:EPL091
OMIM:608762
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
8
90
1
EPL091
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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