DISEASES

Disease-gene associations mined from literature

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Human genes for X-linked sideroblastic anemia with ataxia

X-linked sideroblastic anemia with ataxia [DOID:0050554]

A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene.

Synonyms:  X-linked sideroblastic anemia with ataxia,  DOID:0050554,  Xlinked sideroblastic anemia with ataxia,  X-linked sideroblastic anemia with ataxias,  Anemia sideroblastic and spinocerebellar ataxia ...

Linkouts:  OMIM

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.