DISEASES

Disease-gene associations mined from literature

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Human genes for galactokinase deficiency

Galactokinase deficiency [DOID:14695]

A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.

Synonyms:  galactokinase deficiency,  DOID:14695,  galactokinase deficiencies,  Galactosemia II,  Galactosemia IIs

Linkouts:  OMIM

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.