Oguchi Disease 1 (CSNBO1)

Alias:
Oguchi Disease-1
Csnbo1
Night Blindness, Congenital Stationary, Oguchi Type 1
Congenital Stationary Night Blindness Oguchi Type 1
Oguchi Disease
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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
Oguchi病1,又名Oguchi病-1,与Oguchi病2和松果细胞瘤有关。与Oguchi病1有关的重要基因是SAG(S-Antigen视觉Arrestin),其相关通路/超级通路包括嗅觉信号通路和视觉光传导通路。附属组织包括视网膜,相关表型为先天性静止性夜盲症和Mizuo现象。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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8
54
15

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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