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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
Blood Platelet Disease
Alias:
Platelet Disorder
Blood Platelet Disorders
Platelet Dysfunction
Thrombocytopathy
Qualitative Platelet Deficiency
Platelet Disorders
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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
血小板疾病,又称血小板紊乱,与血小板紊乱、家族性、伴有髓系恶性肿瘤和伯纳德-苏尔综合征有关,症状包括心绞痛、胸痛和水肿。与血小板疾病有关的重要基因是RUNX1(RUNX家族转录因子1),其相关通路/超级通路包括传染病和对血小板胞质内Ca2+升高的反应。在该疾病的背景下提到了药物氯吡格雷和阿司匹林。附属组织包括骨髓和骨,相关表型为稳态/代谢和心血管系统。
Related ID:
MALACARDS:BLD053
MESH:D001791
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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121
1498
13
BLD053
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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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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