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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
Factor V and Factor Viii, Combined Deficiency of, 2 (F5F8D2)
Alias:
Factor V and Factor Viii, Combined Deficiency of
Factor 5 and Factor Viii, Combined Deficiency of, 2
Combined Deficiency of Factor V and Factor Viii
F5f8d2
F5f8d
Deficiency, Combined, Factor V and Factor Viii, Type 2
Factor V and Factor Viii Combined Deficiency 2
Multiple Coagulation Factor Deficiency 2
Fv and Fviii Combined Deficiency
Mcfd2
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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
因子V和因子VIII,联合缺乏2,也称为因子V和因子VIII,联合缺乏1和凝血酶原缺乏。与因子V和因子VIII,联合缺乏2相关的基因是MCFD2(多因子缺乏2,ER货物受体复合物亚基),其相关通路/超级通路包括蛋白质代谢和囊泡介导的运输。相关组织包括骨髓和骨,相关表型为延长的凝血酶原时间和延长的部分凝血酶原时间。
Related ID:
MALACARDS:FCT034
OMIM:613625
MESH:D025861
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
全年龄段
1-9/1000000
4
24
5
FCT034
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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