DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for Bowen-Conradi syndrome

Bowen-Conradi syndrome [DOID:0050684]

A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13.

Synonyms:  Bowen-Conradi syndrome,  BowenConradi syndrome,  Bowen-Conradi disease,  Bowen-Conradi disorder,  Bowen-Conradi 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.