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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
Eccrine Acrospiroma
Alias:
Poroma
Eccrine Poroma
Acrospiroma
Eccrine Hidradenoma of Skin
Adenoma, Sweat Gland
Eccrine Hidradenoma
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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
汗孔样皮瘤,又称皮瘤,与恶性皮瘤和结节性汗腺瘤有关。与汗孔样皮瘤相关的重要基因是NUTM1(NUT中线癌家族成员1),其相关通路/超通路包括神经系统发育和EGR2和SOX10介导的施万细胞髓鞘化启动。附属组织包括皮肤和淋巴结。
Related ID:
MALACARDS:ECC002
MESH:D018250
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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16
112
--
ECC002
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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