General Information of Disease (ID: DISDMSC5)

Disease Name Erythrocyte disorder
Synonyms red blood cell disorder; erythrocyte disease or disorder; erythrocyte disease; disease or disorder of erythrocyte; red blood cell disease; disorder of erythrocyte; disease of erythrocyte
Definition A disease or disorder that involves the erythrocyte.
Disease Hierarchy
DIS9XD9A: Hematologic disease
DISWD40R: Disease
DISDMSC5: Erythrocyte disorder
Disease Identifiers
MONDO ID
MONDO_0044347
UMLS CUI
C0221016
MedGen ID
526127
SNOMED CT ID
38292009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PKLR TT31N4S Strong Biomarker [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KLF1 OT1FK08U Limited Biomarker [2]
HBG1 OTVL4NSU Strong Biomarker [3]
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References

1 Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.PLoS One. 2011;6(9):e24607. doi: 10.1371/journal.pone.0024607. Epub 2011 Sep 13.
2 Differential role of Kruppel like factor 1 (KLF1) gene in red blood cell disorders.Genomics. 2019 Dec;111(6):1771-1776. doi: 10.1016/j.ygeno.2018.11.032. Epub 2018 Dec 5.
3 Understanding globin regulation in beta-thalassemia: it's as simple as alpha, beta, gamma, delta.J Clin Invest. 2005 Jun;115(6):1470-3. doi: 10.1172/JCI25398.