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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
Skin Hemangioma
Alias:
Angiomatous Naevus of Skin
Angioma of the Skin
Hemangioma of Skin
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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
皮肤血管瘤,又称皮肤血管瘤样痣,与血管瘤样痣和血管瘤有关。与皮肤血管瘤相关的基因是GJA4(间隙连接蛋白α4),其相关通路/超级通路包括代谢和鞘脂代谢。附属组织包括皮肤和乳腺,相关表型包括肾/尿系统和稳态/代谢。
Related ID:
MALACARDS:SKN018
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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17
145
1
SKN018
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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