Comparative

Human gene

PKLR pyruvate kinase, liver and RBC

ENSG00000143627 on Ensembl

1 disease group in OMIA reaches this gene, through the animal gene that Ensembl gives as its ortholog. The page shows the chain. It does not say whether an animal is a model of a human disease.

Animal diseases

By each group's best natural-model score, highest first. How the score works.

OMIA group Name Species Animal gene Ortholog The chain reached Best score
844 Pyruvate kinase deficiency of erythrocyte domestic cat PKLR one to one Drug 87.1
for pyruvate kinase deficiency of red cells

Target evidence

Each Open Targets association between this gene and a human disease that a disease group reached.

Human disease Mondo Score Evidence
pyruvate kinase deficiency of red cells MONDO:0009950 0.86 330

Drugs

Each ChEMBL drug that acts on this gene.

Drug How Latest stage
Mitapivat activator Approved
Etavopivat activator Phase 3

The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.