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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
Systemic Mastocytosis with Associated Hematologic Neoplasm
Alias:
Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease
Systemic Mastocytosis with Associated Clonal, Hematologic Non-Mast-Cell Lineage Disease
Sm-Ahnmd
Sm-Ahn
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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
系统性肥大细胞增多症伴相关血液肿瘤,也称为系统性肥大细胞增多症伴相关克隆性非肥大细胞血系疾病,与sm-ahnmd和白血病有关。系统性肥大细胞增多症伴相关血液肿瘤相关的重要基因是ASXL1(ASXL转录调节因子1)。在该疾病的背景下提到了抗原-抗体复合物。附属组织包括骨髓和骨,相关表型为血液肿瘤和白血病。
Related ID:
MALACARDS:SYS077
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
成年期
1-9/100000
4
172
--
SYS077
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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