abnormal red blood cell deformability Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description a measure (DImax) related to cell surface area, of the changeability of the membrane of circulating oxygen transporting cells as a function of physiologically relevant osmolality at a constant applied shear stress (Mammalian Phenotype Ontology, MP_0009568)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009568
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3 gene mutations causing the abnormal red blood cell deformability phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit
SPTA1 spectrin, alpha, erythrocytic 1