Elliptocytosis 1 (EL1)

Alias:
Elliptocytosis-1
El1
Protein 4.1 of Erythrocyte Membrane, Defect of
Elliptocytosis, Rhesus-Linked Type
Elliptocytosis Rhesus-Linked Type
Elliptocytosis, Hereditary
4.1-Minus Trait
Ovalocytosis
4.1- Trait
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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
椭圆细胞增多症1,也称为椭圆细胞增多症-1,与椭圆细胞增多症、东南亚型和椭圆细胞增多症2有关。椭圆细胞增多症1的一个重要相关基因是EPB41(红细胞膜蛋白带4.1)。相关组织包括肾脏和心脏,相关表型包括脾肿大和苍白。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
5
34

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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