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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
Generalized Juvenile Polyposis/juvenile Polyposis Coli
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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
泛发性幼年性多发性息肉/幼年性多发性息肉病与肺静脉闭塞性疾病和弥漫性胃癌有关。泛发性幼年性多发性息肉/幼年性多发性息肉病相关的重要基因是BMPR1A(骨形态发生蛋白受体1A),与其相关通路/超级通路包括FOXO介导的转录和中胚层承诺通路。相关组织包括结肠和心脏,相关表型为异常出血和贫血。
Related ID:
MALACARDS:GNR035
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
全年龄段
--
4
60
35
GNR035
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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