DISEASES

Disease-gene associations mined from literature

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Human genes for alpha thalassemia-intellectual disability syndrome type 1

Alpha thalassemia-intellectual disability syndrome type 1 [DOID:0110029]

An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others.

Synonyms:  alpha thalassemia-intellectual disability syndrome type 1,  DOID:0110029,  alpha thalassemiaintellectual disability syndrome type 1,  ATR syndrome linked to chromosome 16,  ATR syndrome, deletion type ...

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.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.