DISEASES

Disease-gene associations mined from literature

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Human genes for Waardenburg syndrome type 2B

Waardenburg syndrome type 2B [DOID:0110947]

A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3.

Synonyms:  Waardenburg syndrome type 2B,  DOID:0110947,  Waardenburg syndrome type IIB,  WS2B,  Waardenburg syndrome type IIBs

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.