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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
Vitelliform Macular Dystrophy
Alias:
Juvenile-Onset Vitelliform Macular Dystrophy
Macular Dystrophy, Vitelliform
Best Disease
Dystrophy, Macular, Vitelliform
Best Macular Dystrophy
Vitelliform Dystrophy
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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
视网膜黄斑变性,又称青少年黄斑变性,与黄斑变性、视网膜黄斑变性2和黄斑变性、视网膜黄斑变性3有关。与视网膜黄斑变性相关的基因是BEST1(Bestrophin 1),其相关通路/超级通路包括无机离子/阴离子和氨基酸/寡肽的运输和离子通道运输。在该疾病的背景下提到了雷珠单抗和柠檬酸钠。附属组织包括视网膜和眼睛,相关表型为神经系统和色素沉着。
Related ID:
MALACARDS:VTL001
MESH:D057826
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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47
323
23
VTL001
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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