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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
Class I Glucose-6-Phosphate Dehydrogenase Deficiency
Alias:
Severe Hemolytic Anemia Due to G6pd Deficiency
Class I G6pd 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
I型葡萄糖-6-磷酸脱氢酶缺乏症,又称严重溶血性贫血,与葡萄糖磷酸脱氢酶缺乏症和非球形红细胞溶血性贫血有关,由于G6PD缺乏症。与I型葡萄糖-6-磷酸脱氢酶缺乏症相关的重要基因是G6PD(葡萄糖-6-磷酸脱氢酶),其相关通路/超级通路包括ATM信号在发育和疾病中的作用。附属组织包括心脏和皮肤。
Related ID:
MALACARDS:CLS059
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
<1/1000000
4
30
319
CLS059
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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