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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
Neutropenia, Nonimmune Chronic Idiopathic, of Adults (NI-CINA)
Alias:
Nonimmune Chronic Idiopathic Neutropenia of Adults
Ni-Cina
Dominant Nonimmune Chronic Idiopathic Neutropenia of Adults
Neutropenia, Nonimmune Chronic Idiopathic, Adult
Adult Chronic Idiopathic Neutropenia
Adult Idiopathic Neutropenia
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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
成人非免疫慢性特发性中性粒细胞减少症,又称成人非免疫慢性特发性中性粒细胞减少症,与中性粒细胞减少症和急性髓系白血病有关。与成人非免疫慢性特发性中性粒细胞减少症有关的重要基因是GFI1(生长因子独立1转录抑制因子)。相关组织包括中性粒细胞和骨髓,相关表型为中性粒细胞减少症和幽门螺杆菌感染。
Related ID:
MALACARDS:NTR013
OMIM:607847
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
--
1
19
3
NTR013
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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