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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
Erythrocytosis, Familial, 5 (ECYT5)
Alias:
Ecyt5
Familial Erythrocytosis 5
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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
5号家族性红细胞增多症,也称为ecyt5,与7号家族性红细胞增多症和新生儿贫血有关。与5号家族性红细胞增多症相关的基因是EPO(红细胞生成素),其相关通路/超级通路包括刺激的细胞反应和PI3K-Akt信号通路。附属组织包括骨髓和骨,相关表型为多血症和血红蛋白浓度增加。
Related ID:
MALACARDS:ERY063
OMIM:617907
MESH:D011086
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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12
102
2
ERY063
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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