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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
Vascular Skin Disease
Alias:
Skin Diseases, Vascular
Skin Vascular Disease
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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
血管性皮肤疾病,也被称为皮肤血管疾病,与网状血管炎有关,症状包括红斑和瘙痒。与血管性皮肤疾病相关的重要基因是PTRH1(肽基-TRNA水解酶1同源物),其相关通路/超通路包括细胞质病原体相关DNA传感器。在该疾病的背景下,已经提到了药物Dapsone和Folic acid。附属组织包括皮肤。
Related ID:
MALACARDS:VSC009
MESH:D017445
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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7
66
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VSC009
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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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