DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal genetic disease

Autosomal genetic disease [DOID:0050739]

A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.

Synonyms:  autosomal genetic disease,  autosomal genetic disorder,  autosomal genetic syndrome,  autosomal genetic diseases,  DOID:0050739

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.