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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
Pulmonary Artery Disease
Alias:
Abnormality of the Pulmonary Artery
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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
肺动脉疾病,又称肺动脉异常,与动脉、动脉异常和大动脉炎有关。与肺动脉疾病相关的重要基因是CBS(半胱氨酸β合成酶),其相关通路/超通路包括细胞质钙离子升高的反应和胶原链三聚体化。附属组织包括平滑肌和内皮,相关表型为稳态/代谢和心血管系统。
Related ID:
MALACARDS:PLM180
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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38
390
--
PLM180
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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