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hereditary elliptocytosis
(phenotype)
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Genetic Markers
Most Correlated Genes
Most Correlated SNPs
SLC4A1
AMMECR1
SPTB
EPB41
SPTA1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
STEINER_ERYTHROCYTE_MEMBRANE_GENES
HALLMARK_HEME_METABOLISM
cell cortex
GSE34205_RSV_VS_FLU_INF_INFANT_PBMC_UP
VALK_AML_CLUSTER_7
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Most Correlated Studies
Mouse Phenotypes - Congenital disorder
OMIM - Congenital disorder
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Literature
Most Relevant Literature
Comprehensive identification of erythrocyte membrane protein deficiency by 2D gel electrophoresis ba…
Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD acti…
Nonsense-mediated mRNA decay (NMD) blockage promotes nonsense mRNA stabilization in protein 4.1R def…
Transient aplastic crisis in hereditary elliptocytosis.
South-East Asian ovalocytosis.
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Clinical Trials
Most Relevant Clinical Trials
Parvovirus B19 Infection in Hereditary Hemolytic Anemias Patients
A Novel Mutation of the Spectrin Gene
Measurement of Carboxyhemoglobin by Gas Chromatography as an Index of Hemolysis
Safety and Pharmacokinetic Study of RRx-001 in Cancer Subjects
Prevalence of Humoral Dysfunction in Pts With Frequent Exacerbations of COPD, and the Effect of SCIg…
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