spherocytosis Gene Set

Dataset MPO Gene-Phenotype 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://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002812
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Genes

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

Symbol Name
ADD1 adducin 1 (alpha)
ADD2 adducin 2 (beta)
ANK1 ankyrin 1, erythrocytic
BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like
DMTN dematin actin binding protein
EPB41 erythrocyte membrane protein band 4.1
EPB42 erythrocyte membrane protein band 4.2
PRDX2 peroxiredoxin 2
SLC20A1 solute carrier family 20 (phosphate transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
TF transferrin