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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
Combined Oxidative Phosphorylation Deficiency 42 (COXPD42)
Alias:
Coxpd42
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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
复合氧化磷酸化缺陷42,也称为coxpd42。与复合氧化磷酸化缺陷42有关的重要基因是GATC(谷氨酰-TRNA转氨酶亚基C)。相关组织包括肝脏和骨髓,相关表型为听力障碍和贫血。
Related ID:
MALACARDS:CMB098
OMIM:618839
MESH:D028361
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
1
1
CMB098
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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