DISEASES

Disease-gene associations mined from literature

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Human genes for Athabaskan brainstem dysgenesis syndrome

Athabaskan brainstem dysgenesis syndrome [DOID:0050682]

A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene.

Synonyms:  Athabaskan brainstem dysgenesis syndrome,  Athabaskan brainstem dysgenesis disease,  Athabaskan brainstem dysgenesis disorder,  Athabaskan brainstem dysgenesis syndromes,  DOID:0050682 ...

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.