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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
罕见病
Pilomatrixoma (PTR)
Alias:
Pilomatricoma
Epithelioma Calcificans of Malherbe
Benign Pilomatricoma
Ptr
Calcifying Epithelioma of Malherbe
Malherbe Calcifying Epithelioma
Pilomatricoma, Somatic
Benign Pilomatrixoma
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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
皮样囊肿瘤,又名皮样囊肿瘤,与表皮样囊肿和基底细胞癌有关。皮样囊肿瘤相关的重要基因是 CTNNB1 (Catenin Beta 1),其相关通路/超通路包括神经系统发育和哺乳动物 ESC 多能性中的 Nanog。附属组织包括皮肤和结肠,相关表型包括皮样囊肿瘤和皮下结节
Related ID:
MALACARDS:PLM026
OMIM:132600
MESH:D018296
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
孩童期
--
38
427
19
PLM026
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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