DISEASES

Disease-gene associations mined from literature

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Human genes for PHGDH deficiency

PHGDH deficiency [DOID:0050722]

A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis.

Synonyms:  PHGDH deficiency,  DOID:0050722,  PHGDH deficiencies,  PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY,  PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCYs

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.