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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
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due to (HAGGSD)
Alias:
Hemolytic Anemia Due to Gamma-Glutamylcysteine Synthetase Deficiency
Anemia, Hemolytic, Due to Gamma-Glutamylcysteine Synthetase Deficiency
Gamma-Glutamylcysteine Synthetase Deficiency
Glutamate-Cysteine Ligase Deficiency
Haggsd
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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
γ-谷氨酰半胱氨酸合成酶缺乏症,溶血性贫血,也称为溶血性贫血,与谷氨酰-半胱氨酸合成酶缺乏症和溶血性贫血有关。与γ-谷氨酰半胱氨酸合成酶缺乏症,溶血性贫血相关的基因是GCLC(谷氨酰-半胱氨酸合成酶催化亚基)。相关组织包括骨髓和骨。
Related ID:
MALACARDS:GMM011
OMIM:230450
MESH:D000743
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
7
7
GMM011
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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