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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
Thrombophilia, X-Linked, Due to Factor Ix Defect (THPH8)
Alias:
Deep Venous Thrombosis, Protection Against
Thph8
Thrombophilia, X-Linked, Due to Factor 9 Defect
X-Linked Thrombophilia Due to Factor Ix Defect
Thrombophilia 8, X-Linked, Due to Factor Ix 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
血友病甲,X连锁,因子IX缺陷,又名深静脉血栓形成,保护性,与X连锁无脑畸形2和X连锁综合征性智力障碍沙希型有关。与血友病甲,X连锁,因子IX缺陷有关的重要基因是F9(凝血因子IX)。在该疾病的背景下,已提到的药物有肝素、牛肝素和瑞维帕林。附属组织包括骨髓和骨,相关表型为深静脉血栓形成和因子IX活性增加。
Related ID:
MALACARDS:THR055
OMIM:300807
MESH:C567581
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X显
未知
--
10
56
105
THR055
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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