DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for autosomal dominant dyskeratosis congenita 1

Autosomal dominant dyskeratosis congenita 1 [DOID:0070014]

A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TERC on chromosome 3q26.2.

Synonyms:  autosomal dominant dyskeratosis congenita 1,  DOID:0070014,  DKCA1,  Dyskeratosis Congenita, Scoggins Type,  Dyskeratosis Congenita Scoggins Type ...

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.