DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for Waardenburg syndrome type 1

Waardenburg syndrome type 1 [DOID:0110948]

A Waardenburg's syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.

Synonyms:  Waardenburg syndrome type 1,  DOID:0110948,  Waardenburg syndrome type I,  WS1,  Waardenburg syndrome type Is

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.