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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
Myelodysplastic/myeloproliferative Neoplasm
Alias:
Myelodysplastic-Myeloproliferative Diseases
Myelodysplastic/myeloproliferative Disease
Myeloproliferative/myelodysplastic Syndromes
Myelodysplastic Myeloproliferative Disease
Myelodysplastic Myeloproliferative Cancer
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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
骨髓增生异常/骨髓增殖性肿瘤,也称为骨髓增生异常-骨髓增殖性疾病,与伴有髓系相关特征的急性髓系白血病和血小板增多症有关。与骨髓增生异常/骨髓增殖性肿瘤相关的基因是SETBP1(SET结合蛋白1),其相关通路/超级通路包括传染病和ERK信号通路。在该疾病的背景下,已提到药物巯嘌呤和氟达拉滨。附属组织包括骨髓和髓系,相关表型为活力降低和粘附底物细胞生长降低。
Related ID:
MALACARDS:MYL075
MESH:D054437
ICD11:110923694
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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28
565
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MYL075
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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