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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
Telangiectasis
Alias:
Telangiectasia
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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
血管扩张症,又称为血管扩张,与Coats病和局限性硬皮病有关。与血管扩张症相关的基因是ACVRL1(激活素A受体样1型),其相关通路/超级通路包括ERK信号通路和PAK通路。在该疾病的背景下提到了Clonidine和聚雌二醇磷酸盐。附属组织包括皮肤和乳腺,相关表型是shRNA丰度增加(Z-score>2)和铁蛋白在细胞核周围的积累。
Related ID:
MALACARDS:TLN003
MESH:D013684
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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35
504
--
TLN003
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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