DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for gene duplication disease

Gene duplication disease [DOID:0080712]

A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene.

Synonyms:  gene duplication disease,  DOID:0080712,  gene duplication disorder,  gene duplication syndrome,  gene duplication diseases ...

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.