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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-Rod Dystrophy 6 (CORD6)
Alias:
Retinal Cone Dystrophy 2
Cord6
Rcd2
Progressive Cone Degeneration
Dystrophy, Cone-Rod, Type 6
Retinitis Pigmentosa 6
Cone 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
视锥-视杆萎缩6,也称为视锥萎缩2,与视锥萎缩1和Leber先天性黑蒙4有关。与视锥-视杆萎缩6有关的重要基因是GUCY2D(视网膜鸟苷酸环化酶2D),其相关通路/超级通路包括嗅觉信号通路和视觉光转导通路。干扰素-γ和干扰素已在该疾病的背景下被提及。附属组织包括视网膜和眼睛,相关表型为视力下降和夜盲症。
Related ID:
MALACARDS:CNR007
OMIM:601777
MESH:D058499
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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14
61
55
CNR007
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
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Publications
No data available
References Literature
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IF
No Data Found!
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