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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 Aggregation, Spontaneous
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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
血小板聚集,自发性与质性血小板缺陷和获得性血管性血友病有关。与血小板聚集,自发性相关的基因是CANT1(钙激活核苷酸酶1),其相关通路/超级通路包括细胞质钙离子升高的反应和止血疾病。在该疾病的背景下提到了秋水仙碱和微管调节剂。相关组织包括全血和内皮细胞,相关表型为稳态/代谢和神经系统。
Related ID:
MALACARDS:PLT015
OMIM:173400
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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9
97
1
PLT015
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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