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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
Color Blindness
Alias:
Color Vision Defect
Colour Vision Deficiency
Color Vision Deficiency
Defective Color Vision
Color Vision Defects
Vision Defect, Color
Color-Vision Disease
Colour Blindness
Blindness Color
Dyschromatopsia
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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
色盲,也称为色觉缺陷,与三色视缺陷和X连锁锥-视网膜病变3有关,症状包括畏光、视觉障碍和其他特定的视觉障碍。与色盲有关的重要基因是NR2E3(核受体亚家族2组E成员3),其相关通路/超级通路包括嗅觉信号通路和甜味信号通路。苯基丁酸和甘油在该疾病的背景下被提及。附属组织包括眼睛和视网膜,相关表型是shRNA丰度增加(Z-score>2)和神经系统。
Related ID:
MALACARDS:CLR019
MESH:D003117
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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40
321
3
CLR019
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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