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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
Thrombocythemia 3 (THCYT3)
Alias:
Thrombocytosis 3
Thcyt3
Thrombocythemia, Type 3
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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
血小板增多症3,又称血小板增多症3,与原发性血小板增多症和淋巴母细胞白血病、急性、淋巴母细胞特征有关。与血小板增多症3有关的重要基因是JAK2(Janus Kinase 2)。附属组织包括骨髓和骨,相关表型为血小板增多症和缺血性中风。
Related ID:
MALACARDS:THR086
OMIM:614521
MESH:D013920
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
2
20
20
THR086
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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