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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
Physical Urticaria
Alias:
Symptomatic Dermographism
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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
物理性荨麻疹,又称症状性划痕症,与胆碱能性荨麻疹和振动性荨麻疹有关,症状包括达尔戎氏征和皮肤系统症状。与物理性荨麻疹有关的重要基因是ADGRE2(粘附蛋白偶联受体E2),其相关通路/超级通路包括GPCRs、其他和GPCRs、B类分泌素样。在该疾病的背景下,奥马利珠单抗和免疫因子已被提及。附属组织包括皮肤和大脑,相关表型为免疫系统和造血系统。
Related ID:
MALACARDS:PHY008
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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16
124
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PHY008
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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