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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
Resting Heart Rate, Variation in (RHR)
Alias:
Resting Heart Rate
Resting Heart Rate, Variation
Rhr
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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
静息心率变异,也称为静息心率,与充血性心力衰竭和高血压有关,是重要的。与静息心率变异相关的基因是ADRB1(肾上腺素能受体β1),其相关通路/超级通路包括NFAT和心肌肥大以及β-2肾上腺素能依赖性CFTR表达。在该疾病的背景下提到了阿替洛尔和比索洛尔。附属组织包括心脏和脊髓。
Related ID:
MALACARDS:RST023
OMIM:607276
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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4
19
7
RST023
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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