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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
Glucosephosphate Dehydrogenase Deficiency
Alias:
G6pd Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency
Deficiency of Glucose-6-Phosphate Dehydrogenase
Glucose 6 Phosphate Dehydrogenase Deficiency
Deficiency of G-6pd
G6pdd
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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
葡萄糖磷酸脱氢酶缺乏症,也称为G6PD缺乏症,与类I葡萄糖-6-磷酸脱氢酶缺乏症和6-磷酸葡萄糖脱氢酶缺乏症有关。与葡萄糖磷酸脱氢酶缺乏症相关的基因是G6PD(葡萄糖-6-磷酸脱氢酶),其相关通路/超级通路包括药物ADME和辛伐他汀通路-一般化,药代动力学。在该疾病的背景下提到了哌嗪和阿替莫尔。附属组织包括脾脏和心脏。
Related ID:
MALACARDS:GLC009
MESH:D005955
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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41
213
344
GLC009
Medical Symptom
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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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Mutations
No data available
Related Drugs
Name
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No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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No Data Found!
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