Night Blindness, Congenital Stationary, Autosomal Dominant 3 (CSNBAD3)

Alias:
Congenital Stationary Night Blindness Autosomal Dominant 3
Csnbad3
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 3
Night Blindness, Congenital Stationary, Nougaret Type
Nougaret Type Congenital Stationary Night Blindness
Congenital Stationary Night Blindness Nougaret Type
Hemeralopia Congenital Essential
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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
夜盲症,先天性固定型,常染色体显性3,也称为先天性固定型夜盲症常染色体显性3,与视锥视杆萎缩2和先天性固定型夜盲症常染色体显性2有关。与夜盲症,先天性固定型,常染色体显性3相关的基因是GNAT1(G蛋白亚基α转导素1),其相关通路/超通路包括细胞器生物发生和维护以及巴德-毕德氏综合症。相关表型是先天性固定型夜盲症和脂肪组织。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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7
34
4

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
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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