DISEASES

Disease-gene associations mined from literature

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Human genes for hereditary spherocytosis type 5

Hereditary spherocytosis type 5 [DOID:0110920]

A hereditary spherocytosis that has_material_basis_in a mutation of EPB42 on chromosome 15q15.2.

Synonyms:  hereditary spherocytosis type 5,  DOID:0110920,  familial spherocytosis type 5,  hereditary spherocytosis 5,  HS5 ...

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.