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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 Lipoma
Alias:
Lipoma of Skin
Cutaneous Lipomatous Neoplasm
Cutaneous Lipomatous Tumor
Cutaneous Lipoma
Lipoma of Face
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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
皮肤脂肪瘤,又称皮肤脂肪瘤,与脂肪瘤病、家族性多发性脂肪瘤和科登综合征有关。与皮肤脂肪瘤有关的重要基因是MEN1(Menin 1),其相关通路/超级通路包括RAF/MAP激酶级联和信号转导。附属组织包括皮肤和胰腺,相关表型为增加的克隆分散(克隆数量增加和每个克隆中的细胞数量减少)和肌肉。
Related ID:
MALACARDS:SKN002
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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8
204
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SKN002
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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