DISEASES

Disease-gene associations mined from literature

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Human genes for gamma-glutamyl transpeptidase deficiency

Gamma-glutamyl transpeptidase deficiency [DOID:0111257]

An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23.

Synonyms:  gamma-glutamyl transpeptidase deficiency,  DOID:0111257,  gammaglutamyl transpeptidase deficiency,  gamma-glutamyl transpeptidase deficiencies,  GGT deficiency ...

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.