DISEASES

Disease-gene associations mined from literature

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Human genes for sideroblastic anemia 1

Sideroblastic anemia 1 [DOID:0060063]

A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production.

Synonyms:  sideroblastic anemia 1,  DOID:0060063,  sideroblastic anaemia 1,  X-linked sideroblastic anaemia,  X-linked sideroblastic anemia ...

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.