DISEASES

Disease-gene associations mined from literature

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Human genes for Waardenburg syndrome type 4B

Waardenburg syndrome type 4B [DOID:0110954]

A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13.

Synonyms:  Waardenburg syndrome type 4B,  DOID:0110954,  Waardenburg syndrome type IVB,  Waardenburg syndrome with Hirschsprung disease type 4B,  WS4B ...

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.