DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal dominant severe congenital neutropenia

Autosomal dominant severe congenital neutropenia [DOID:0112130]

A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene.

Synonyms:  autosomal dominant severe congenital neutropenia,  autosomal dominant severe congenital neutropenias,  DOID:0112130

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.