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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-Dependent Clotting Factors, Combined Deficiency of, 2 (VKCFD2)
Alias:
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, Type 2
Combined Deficiency of Vitamin K-Dependent Clotting Factors 2
Vkcfd2
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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依赖性凝血因子,联合缺乏,2,也称为维生素K依赖性凝血因子,联合缺乏,2,与维生素K缺乏性出血和罕见出血性疾病有关。与维生素K依赖性凝血因子,联合缺乏,2有关的重要基因是VKORC1(维生素K氧化还原酶复合物亚基1),其相关通路/超级通路包括γ-羧化、羟基化、芳基硫酸酶激活和维生素K代谢以及依赖性蛋白质的激活。附属组织包括骨髓和肝脏,相关表型为异常出血和因子X活性降低。
Related ID:
MALACARDS:VTM010
OMIM:607473
MESH:C564393
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
7
45
4
VTM010
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
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Publications
No data available
References Literature
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IF
No Data Found!
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