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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, 1 (ARMD1)
Alias:
Macular Degeneration
Age-Related Macular Degeneration
Age Related Macular Degeneration 1
Macular Degeneration, Age-Related
Age Related Macular Degeneration
Armd1
Senile Macular Retinal Degeneration
Macular Degeneration, Age-Related, 1, Susceptibility to
Macular Degeneration, Age-Related, Reduced Risk of
Senile Macular Degeneration of Retina, Unspecified
Age-Related Maculopathy, Susceptibility to
Macular Degeneration, Age-Related, Type 1
Macular Degeneration, Age-Related, 2
Smd - [senile Macular Degeneration]
Macular Degeneration of Retina
Maculopathy, Age-Related, 1
Senile Macular Degeneration
Age Related Maculopathy 1
Age Related Maculopathies
Maculopathy, Age-Related
Age Related Maculopathy
Age-Related Maculopathy
Maculopathy Age-Related
Armd
Amd
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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,1,也被称为黄斑变性,年龄相关,4和视网膜劈裂,1,X连锁,青少年,其症状包括视力丧失,心绞痛和震颤。与黄斑变性,年龄相关,1有关的重要基因是HMCN1(半胱氨酸蛋白酶抑制剂1),其相关通路/超级通路包括补体通路。在该疾病的背景下提到的药物有Nepafenac和Lactitol。附属组织包括眼睛和视网膜,相关表型为黄斑出血和脉络膜新生血管。
Related ID:
MALACARDS:MCL042
OMIM:603075
MESH:D008268
ICD11:1514301548
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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182
1870
172
MCL042
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
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Publications
No data available
References Literature
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IF
No Data Found!
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