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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
Phagocyte Bactericidal Dysfunction
Alias:
Phagocytic Dysfunction
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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
噬菌细胞杀菌功能障碍,又称噬菌细胞功能障碍,与免疫缺陷34和肺病有关。与噬菌细胞杀菌功能障碍相关的重要基因是CYBB(细胞色素B-245β链),其相关通路/超级通路包括信号转导和Rho GTPases信号转导。Omega-3脂肪酸已在该疾病的背景下被提及。附属组织包括中性粒细胞和单核细胞,相关表型为稳态/代谢和细胞
Related ID:
MALACARDS:PHG002
MESH:D010585
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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24
216
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PHG002
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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