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
Favorite
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:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
14
61
55

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!
微信
信息比对
科研助手
使用教程
回到顶部