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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
Cutaneous Ganglioneuroma
Alias:
Ganglioneuroma 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
皮肤神经节瘤,又称为皮肤神经节瘤,与神经节瘤和角化病有关。与皮肤神经节瘤相关的基因是CNP(2',3'-环核苷酸3'磷酸二酯酶),其相关通路/超通路包括信号转导和RAF/MAP激酶级联反应。附属组织包括皮肤,相关表型包括活力降低和减少乳腺球体形成。
Related ID:
MALACARDS:CTN010
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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18
441
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CTN010
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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