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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
非罕见病
Visual Pathway Disease
Alias:
Disorder of Visual Pathways
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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
视觉通路疾病,又称视觉通路障碍,与狂犬病和步态失用症有关。与视觉通路疾病相关的重要基因是CBS(半胱氨酸β合酶),其相关通路/超通路包括过氧化物酶体脂质代谢和核酸代谢和先天性免疫感知通路。附属组织包括眼睛和大脑皮层,相关表型为死亡/衰老。
Related ID:
MALACARDS:VSL005
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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23
222
--
VSL005
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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