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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
Macular Degeneration, Age-Related, 7 (ARMD7)
Alias:
Age Related Macular Degeneration 7
Armd7
Macular Degeneration, Age-Related, Neovascular Type
Susceptibility to Neovascular Type of Age-Related Macular Degeneration
Macular Degeneration, Age-Related, Type 7
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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
黄斑变性,年龄相关,7型,也称为年龄相关性黄斑变性7型,与脉络膜炎和库恩-朱尼乌斯退行性病变有关。与黄斑变性,年龄相关,7型相关的基因是HTRA1(HtrA丝氨酸肽酶1),其相关通路/超级通路包括神经系统发育和肝细胞癌中参与Wnt信号通路的ncRNAs。附属组织包括眼睛和大脑,相关表型为黄斑变性和神经系统。
Related ID:
MALACARDS:MCL041
OMIM:610149
MESH:D008268
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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9
245
17
MCL041
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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