Within the set of OMIM diseases, we identified biochemical and metabolic diseases such as disorders of oxidative phosphorylation and glycosylation as well as D-2-hydroxyglutaric aciduria, glycogen storage disease, phenylketonuria due to dihydropteridine reductase deficiency and phosphoglycerate kinase 1 deficiency. Here, PGK1 is linked to Glycogen storage disease due to glycogenin deficiency.