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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
非罕见病
Retinal Vascular Disease
Alias:
Retinal Vascular Disorder
Retinal Vascular
Retina Circulation Disorder
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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
视网膜血管病,又称视网膜血管紊乱,与渗出性玻璃体视网膜病变1和血管疾病有关,症状包括胸痛。与视网膜血管病相关的重要基因是NDP(Norrin Cystine Knot Growth Factor NDP),其相关通路/超级通路包括胸膜间皮瘤和胚胎和诱导多能干细胞和特异性标记物。在该疾病的背景下提到了药物阿柏西普和拉坦前列素。附属组织包括视网膜和眼睛,相关表型是视力/眼睛。
Related ID:
MALACARDS:RTN020
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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39
505
--
RTN020
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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