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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
罕见病
Severe Congenital Neutropenia 6 (SCN6)
Alias:
Autosomal Recessive Severe Congenital Neutropenia Due to Jagn1 Deficiency
Scn6
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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
6号严重先天性中性粒细胞减少症,也称为JAGN1缺乏导致的常染色体隐性严重先天性中性粒细胞减少症,与6号严重先天性中性粒细胞减少症、常染色体隐性有关。与6号严重先天性中性粒细胞减少症相关的重要基因是JAGN1(Jagunal Homolog 1)。相关组织包括中性粒细胞和骨。
Related ID:
MALACARDS:SVR108
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
6
22
1
SVR108
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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