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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
罕见病
Epilepsy, Familial Temporal Lobe, 7 (ETL7)
Alias:
Familial Temporal Lobe Epilepsy 7
Etl7
Epilepsy, Temporal Lobe, Familial, Type 7
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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,家族性颞叶,7型,又称家族性颞叶癫痫7型,与神经元迁移障碍和家族性颞叶癫痫3型有关。与癫痫,家族性颞叶,7型相关的重要基因是RELN(重连蛋白),其相关通路/超级通路包括导向线索和生长锥运动以及重连蛋白通路(Cajal-Retzius细胞)。附属组织包括颞叶,相关表型为局部感觉性发作伴有听觉特征和神经系统。
Related ID:
MALACARDS:EPL150
OMIM:616436
MESH:D004833
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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9
89
8
EPL150
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
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Publications
No data available
References Literature
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No Data Found!
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