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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
Alpha Delta Granule Deficiency
Alias:
Combined Alpha-Delta Platelet Storage Pool Deficiency
Alpha Dense Granule Deficiency
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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
α-δ颗粒缺乏症也被称为联合α-δ血小板储存池缺陷症,与血小板储存池疾病和出血性疾病、血小板型17有关。与Alpha Delta Granule Deficiency相关的一个重要基因是GFI1B(生长因子非依赖型1B转录抑制因子)。
Related ID:
MALACARDS:ALP057
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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1
10
--
ALP057
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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