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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
Solitary Mastocytoma of the Skin
Alias:
Solitary Mastocytoma
Skin Mastocytoma
Cutaneous Solitary Mastocytoma
Solitary Mastocytoma of Skin
Mastocytoma, 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
皮肤孤立性肥大细胞瘤,又称孤立性肥大细胞瘤,与肥大细胞瘤和肥大细胞增生症有关。与皮肤孤立性肥大细胞瘤相关的重要基因是KIT(KIT原癌基因,受体酪氨酸激酶),其相关通路/超级通路包括PAK通路和NF-κB信号通路。附属组织包括皮肤和平滑肌,相关表型包括免疫系统和造血系统。
Related ID:
MALACARDS:SLT017
MESH:D054705
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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9
251
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SLT017
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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