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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
Platelet Glycoprotein Iv Deficiency (PG4D)
Alias:
Platelet-Type Bleeding Disorder 10
Cd36 Deficiency
Bdplt10
Bleeding Disorder, Platelet-Type, 10
Deficiency, Platelet Glycoprotein Iv
Bleeding Disorder Platelet-Type 10
Pg4d
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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
血小板糖蛋白IV缺乏症,又称血小板型出血障碍10,与高脂蛋白血症I型和低脂蛋白血症有关。与血小板糖蛋白IV缺乏症相关的重要基因是CD36(CD36分子),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,相关组织包括单核细胞和中性粒细胞,相关表型为血小板减少和出血时间延长。
Related ID:
MALACARDS:PLT004
OMIM:608404
MESH:D013921
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
18
245
29
PLT004
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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