acanthocytosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. (Human Phenotype Ontology, HP_0001927)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001927
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Genes

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

Symbol Name
APOB apolipoprotein B
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22
GATA1 GATA binding protein 1 (globin transcription factor 1)
MTTP microsomal triglyceride transfer protein
PANK2 pantothenate kinase 2
SC5D sterol-C5-desaturase
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
XK X-linked Kx blood group