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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
Aggressive Nk-Cell Leukemia (ANKCL)
Alias:
Nk-Cell Large Granular Lymphocyte Leukemia
Aggressive Nk-Cell Lymphoma
Nk-Cell Lgl Leukemia
Ankcl
Leukemia, Natural Killer Cell Large Granular Lymphocytic
Large Granular Lymphocyte Leukemia, Nk-Cell Type
Aggressive Natural Killer-Cell Leukemia
Leukemia, Large Granular Lymphocytic
Natural Killer Cell Leukaemia
Aggressive Nk-Cell Leukaemia
Natural Killer Cell Leukemia
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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
侵袭性自然杀伤细胞白血病,又称自然杀伤细胞大颗粒淋巴细胞白血病,与复合淋巴瘤和再生障碍性贫血有关,症状包括发热。与侵袭性自然杀伤细胞白血病相关的重要基因是NCAM1(神经细胞粘附分子1),其相关通路/超级通路包括NF-κB信号通路和淋巴细胞与非淋巴细胞之间的免疫调节相互作用。在该疾病的背景下,已提到的药物包括泼尼松和沙利度胺。相关组织包括自然杀伤细胞和骨髓,相关表型为免疫系统和造血系统。
Related ID:
MALACARDS:AGG012
ICD11:153957345
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
成年期
--
17
146
--
AGG012
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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