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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
Bleeding Disorder, Platelet-Type, 20 (BDPLT20)
Alias:
Platelet-Type Bleeding Disorder 20
Bdplt20
Autosomal Dominant Thrombocytopenia with Platelet Secretion Defect
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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
出血障碍,血小板型,20,又称血小板型出血障碍20,与出血障碍,血小板型,18和颈动脉血栓形成有关。与出血障碍,血小板型,20有关的重要基因是SLFN14(Schlafen家族成员14),其相关通路/超级通路包括17q12拷贝数变异综合征和血小板聚集抑制剂通路,药理学。附属组织包括骨髓和骨,相关表型为血小板减少症和鼻出血。
Related ID:
MALACARDS:BLD133
OMIM:616913
MESH:D001791
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
<1/1000000
8
60
2
BLD133
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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