DISEASES

Disease-gene associations mined from literature

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Literature associating POLE and metaphyseal dysplasia

POLE [ENSP00000322570]

Polymerase (DNA directed), epsilon, catalytic subunit; Participates in DNA repair and in chromosomal DNA replication; Belongs to the DNA polymerase type-B family.

Synonyms:  POLE,  D3DXI9,  F5H0H8,  F5H1D6,  F5H3W5 ...

Linkouts:  STRING  Pharos  UniProt  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.