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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
Vulvar Syringoma
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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
外阴汗管瘤与汗管瘤和乳头状癌有关,症状包括外阴不适和瘙痒。与外阴汗管瘤有关的重要基因是PGR(孕激素受体),其相关通路/超通路包括乳腺发育通路-妊娠和哺乳(第4阶段的第3阶段)和大麻素受体信号通路。附属组织包括皮肤。
Related ID:
MALACARDS:VLV019
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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10
124
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VLV019
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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