DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for Bart-Pumphrey syndrome

Bart-Pumphrey syndrome [DOID:0050658]

A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.

Synonyms:  Bart-Pumphrey syndrome,  BartPumphrey syndrome,  Bart-Pumphrey disease,  Bart-Pumphrey disorder,  Bart-Pumphrey 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.