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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
Prothrombin Deficiency, Congenital (FA2D)
Alias:
Dysprothrombinemia
Hypoprothrombinemia
Congenital Prothrombin Deficiency
Factor Ii Deficiency
Hereditary Factor Ii Deficiency Disease
Inherited Factor Ii Deficiency
Deficiency, Prothrombin
Prothrombin Deficiency
Hypoprothrombinemias
Fa2d
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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
凝血酶原缺乏症,先天性,又称抗凝血酶缺乏症,与凝血酶原缺乏症和血友病有关。与先天性凝血酶原缺乏症相关的基因是F2(凝血因子II,凝血酶),其相关通路/超级通路包括细胞质钙离子升高的反应和胶原链三聚体化。在该疾病的背景下提到了华法林和抗凝血剂。附属组织包括肝脏和骨髓,相关表型为胃肠道出血和鼻出血。
Related ID:
MALACARDS:PRT129
OMIM:613679
MESH:D007020
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
5
28
42
PRT129
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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