DISEASES

Disease-gene associations mined from literature

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Human genes for Diamond-Blackfan anemia 1

Diamond-Blackfan anemia 1 [DOID:0111895]

A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS19 on chromosome 19q13.2.

Synonyms:  Diamond-Blackfan anemia 1,  DiamondBlackfan anemia 1,  DOID:0111895,  DBA1,  RPS19-related Diamond-Blackfan anemia ...

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.