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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
Hypertriglyceridemia 1 (HYTG1)
Alias:
Hypertriglyceridemia
Hypertriglyceridemia, Susceptibility to
Hypertriglyceridemia, Familial
Hytg1
Hypertriglyceridemias Familial
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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
高甘油三酯血症1,也称为高甘油三酯血症,与载脂蛋白C-II缺乏和脂酶缺乏有关,合并症状包括高甘油三酯腰围。与高甘油三酯血症1相关的重要基因是APOA5(载脂蛋白A5),其相关通路/超通路包括代谢和嗅觉信号通路。在该疾病的背景下提到了二甲双胍和环丙沙星。附属组织包括心脏和肝脏,相关表型为高甘油三酯血症和葡萄糖不耐受。
Related ID:
MALACARDS:HYP875
OMIM:145750
MESH:D006953
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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14
152
22
HYP875
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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