Triosephosphate isomerase deficiency Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_physical_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. (Human Disease Ontology, DOID_0050884)
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1 genes associated with the Triosephosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
TPI1 triosephosphate isomerase 1