abnormal circulating pyruvate kinase level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description abnormal concentration in the blood of the phosphotransferase in the glycolytic pathway that catalyzes the transfer of phosphate from phosphoenolpyruvate to ADP, forming ATP and p; deficiency results in hemolytic anemia (Mammalian Phenotype Ontology, MP_0010106)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010106
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2 gene mutations causing the abnormal circulating pyruvate kinase level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
DMD dystrophin
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)