anisopoikilocytosis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes. (Human Phenotype Ontology, HP_0004823)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002641
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Genes

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

Symbol Name
ADD2 adducin 2 (beta)
AHSP alpha hemoglobin stabilizing protein
ANK1 ankyrin 1, erythrocytic
BLM Bloom syndrome, RecQ helicase-like
CCNE1 cyclin E1
CD59 CD59 molecule, complement regulatory protein
EPB41 erythrocyte membrane protein band 4.1
FERMT3 fermitin family member 3
HEPH hephaestin
PPP1R15A protein phosphatase 1, regulatory subunit 15A
RHBDF1 rhomboid 5 homolog 1 (Drosophila)
SAMD9L sterile alpha motif domain containing 9-like
SLC7A1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 1
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
STEAP3 STEAP family member 3, metalloreductase
TMPRSS6 transmembrane protease, serine 6
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)