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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Elliptocytosis 1, also known as elliptocytosis-1, is related to ovalocytosis, southeast asian and elliptocytosis 2. An important gene associated with Elliptocytosis 1 is EPB41 (Erythrocyte Membrane Protein Band 4.1). Affiliated tissues include kidney and heart, and related phenotypes are splenomegaly and pallor
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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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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