DISEASES

Disease-gene associations mined from literature

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Human genes for Birk-Barel syndrome

Birk-Barel syndrome [DOID:0050675]

A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24.

Synonyms:  Birk-Barel syndrome,  BirkBarel syndrome,  Birk-Barel disease,  Birk-Barel disorder,  Birk-Barel syndromes ...

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.