elliptocytosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description hematologic disorder in which an abnormally large number of erythrocytes are elliptical rather than the typical biconcave, disc shape (Mammalian Phenotype Ontology, MP_0009547)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004445
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Genes

5 genes associated with the elliptocytosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
EPB41 erythrocyte membrane protein band 4.1
GATA1 GATA binding protein 1 (globin transcription factor 1)
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic