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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
Cone Dystrophy
Alias:
Progressive Cone Dystrophy
Cone Dystrophy Progressive
Retinal Cone Dystrophy
Cone Dystrophy 3
Dystrophy, Cone
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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
锥体视网膜营养不良,又称进行性锥体视网膜营养不良,与视网膜锥体营养不良3b和视网膜锥体营养不良4有关,症状包括畏光。与锥体视网膜营养不良有关的重要基因是GNAT2(G蛋白亚基α转导素2),其相关通路/超级通路包括甜味信号通路和视网膜杆细胞的视觉循环。干扰素-γ和干扰素已在该疾病的背景下被提及。附属组织包括眼睛和视网膜,相关表型为视觉障碍和视网膜色素沉着异常。
Related ID:
MALACARDS:CND005
MESH:D000077765
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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127
851
61
CND005
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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