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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
Vitamin K Deficiency Bleeding
Alias:
Vitamin K Deficiency
Deficiency of Vitamin K
Vitamin K Deficiency Hemorrhagic Disease
Vitamin K
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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
维生素K缺乏性出血,也称为维生素K缺乏症,与维生素K依赖性凝血因子、2和维生素K依赖性凝血因子、1的联合缺乏有关。与维生素K缺乏性出血有关的重要基因是F2(凝血因子II,凝血酶),其相关通路/超级通路包括蛋白质代谢和细胞质钙2+升高的反应。Apixaban和Fluindione已在该疾病的背景下被提及。附属组织包括骨和肝,相关表型为稳态/代谢和心血管系统。
Related ID:
MALACARDS:VTM033
MESH:D014813
ICD11:515977598
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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18
122
3
VTM033
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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