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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
Monocyte, Dendritic Cell, and Nk Cell 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
单核细胞、树突状细胞和自然杀伤细胞缺陷与免疫缺陷32b和马尾神经综合征有关。与单核细胞、树突状细胞和自然杀伤细胞缺陷有关的重要基因是DGCR5(DiGeorge综合征关键区域基因5),其相关通路/超级通路包括树突状细胞发育谱系通路和经验证的C-MYC转录抑制靶标。附属组织包括自然杀伤细胞和单核细胞。
Related ID:
MALACARDS:MNC022
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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5
63
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MNC022
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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