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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
Hemophilia
Alias:
Haemophilia
Hemophilia, Hereditary
Hemophilia, Familial
Hemophilia, Nos
Hemophilia a
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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,又称血友病,与血友病B和血管性血友病2型有关,症状包括心绞痛、胸痛和水肿。与血友病有关的重要基因是F8(凝血因子VIII),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氟替卡松和利巴韦林。附属组织包括大脑和肝脏。
Related ID:
MALACARDS:HMP007
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X显
胎儿期
1-9/100000
7
67
3
HMP007
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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