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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
Vitreoretinopathy, Neovascular Inflammatory (VRNI)
Alias:
Proliferative Vitreoretinopathy
Adniv
Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy
Neovascular Inflammatory Vitreoretinopathy
Vrni
Pvr
Vitreoretinopathy, Neovascular Inflammatory, Autosomal Dominant
Neovascular Inflammatory Vitreoretinopathy Autosomal Dominant
Vitreoretinopathy, Proliferative
Proliferative Vitreo-Retinopathy
Vitreoretinopathy Proliferative
Retinitis Proliferans
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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
视网膜血管炎性新生病变,也称为增殖性视网膜病变,与视网膜脱离和肺动脉高压有关。与视网膜血管炎性新生病变相关的基因是CAPN5(钙蛋白酶5),其相关通路/超级通路包括滑膜成纤维细胞的凋亡通路和ERK信号通路。在该疾病的背景下提到了药物曲安奈德和布比卡因。相关组织包括眼睛和视网膜,相关表型为失明和异常电生理视网膜图。
Related ID:
MALACARDS:VTR013
OMIM:193235
MESH:D018630
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
全年龄段
<1/1000000
25
262
6
VTR013
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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