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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
Familial Hyperlipidemia
Alias:
Familial Hyperlipoproteinemia
Hyperlipoproteinemias
Hyperlipidaemia
Hyperlipidemia
Hyperlipidemias
Hyperlipemia
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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
家族性高脂血症,又称为家族性高脂蛋白血症,与高脂蛋白血症I型和高脂蛋白血症V型有关。与家族性高脂血症有关的重要基因是APOB(载脂蛋白B),其相关通路/超级通路包括无机离子/氨基酸/寡肽的代谢和运输。在该疾病的背景下提到了达格列净和聚卡波非钙。附属组织包括心脏和肝脏,相关表型为自由胆固醇增加和LDL摄取增加。
Related ID:
MALACARDS:FML035
MESH:D006949
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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40
465
--
FML035
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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