stomatocytosis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. (Human Phenotype Ontology, HP_0004446)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010074
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Genes

3 gene mutations causing the stomatocytosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ANK1 ankyrin 1, erythrocytic
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)