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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
Bradyopsia (PERRS)
Alias:
Prolonged Electroretinal Response Suppression
Perrs
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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
Bradyopsia,也被称为延长的电生理反应抑制,与延长的电生理反应抑制1和病理性眼震有关。与Bradyopsia相关的基因是RGS9BP(G蛋白信号转导调节因子9结合蛋白),其相关通路/超通路包括信号转导和G蛋白偶联受体下游信号转导。相关组织包括眼睛和视网膜,相关表型包括视力障碍和畏光。
Related ID:
MALACARDS:BRD009
MESH:C564243
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
<1/1000000
20
100
2
BRD009
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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