acanthocytosis Gene Set

Dataset	MPO Gene-Phenotype 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://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010177
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Genes

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

Symbol	Name
AHSP	alpha hemoglobin stabilizing protein
ANK1	ankyrin 1, erythrocytic
ASL	argininosuccinate lyase
NCKAP1L	NCK-associated protein 1-like
NFE2L2	nuclear factor, erythroid 2-like 2
PPP1R15A	protein phosphatase 1, regulatory subunit 15A
SPTB	spectrin, beta, erythrocytic
TTC7A	tetratricopeptide repeat domain 7A
VPS13A	vacuolar protein sorting 13 homolog A (S. cerevisiae)