DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for galactose epimerase deficiency

Galactose epimerase deficiency [DOID:0111458]

A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALE on chromosome 1p36.11.

Synonyms:  galactose epimerase deficiency,  DOID:0111458,  galactose epimerase deficiencies,  epimerase deficiency galactosemia,  galactosemia III ...

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.