DISEASES - autosomal recessive dyskeratosis congenita 5

Human genes for autosomal recessive dyskeratosis congenita 5

Autosomal recessive dyskeratosis congenita 5 [DOID:0070022]

A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of RTEL1 on chromosome 20q13.33.

Synonyms: autosomal recessive dyskeratosis congenita 5, DOID:0070022, DKCB5

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.