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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 Valve Insufficiency
Alias:
Pulmonary Regurgitation
Pulmonary Insufficiency Following Trauma and Surgery
Pulmonary Incompetence, Non-Rheumatic
Annular Incompetency Pulmonary Valve
Pulmonary Valvular Insufficiency
Pulmonary Valvular Regurgitation
Pulmonary Valve Incompetence Nos
Pulmonary Valvular Incompetency
Pulmonary Valvular Incompetence
Pulmonic Valve Regurgitation
Pulmonary Valve Incompetence
Pulmonary Valve Incompetency
Incompetent Pulmonary Valve
Pulmonary Incompetence
Pulmonic Insufficiency
Graham Steell Murmur
Pulmonary Regurg.
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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
肺动脉瓣关闭不全,又称为肺动脉反流,与感染性心内膜炎和肠癌有关。与肺动脉瓣关闭不全相关的基因是NPPB(利钠肽B),其相关通路/超级通路包括人类胚胎干细胞多能性和心肌细胞肥大的微小RNA。在该疾病的背景下提到了药物多巴胺和拟交感神经药。相关组织包括心脏和肝脏,相关表型是肌肉和稳态/新陈代谢。
Related ID:
MALACARDS:PLM022
MESH:D011665
ICD11:1093888988
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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15
160
--
PLM022
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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