spherocytosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of erythrocytes that are sphere-shaped. (Human Phenotype Ontology, HP_0004444)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004444
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Genes

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

Symbol Name
ANK1 ankyrin 1, erythrocytic
EPB42 erythrocyte membrane protein band 4.2
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic