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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 3 (COD3)
Alias:
Cone-Rod Dystrophy 14
Cone Dystrophy-3
Cod3
Dystrophy, Cone, Type 3
Retinal Cone Dystrophy
Cord14
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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3,又称锥体视网膜营养不良14,与锥体视网膜营养不良6和锥体营养不良有关,症状包括畏光。与锥体视网膜营养不良3有关的重要基因是GUCA1A(鸟苷酸环化酶激活剂1A),其相关通路/超级通路包括视觉光感受传导和视网膜棒状体的视觉循环。相关组织包括视网膜,相关表型包括黄斑萎缩和畏光。
Related ID:
MALACARDS:CND011
OMIM:602093
MESH:C566579
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
2
8
22
CND011
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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