DISEASES

Disease-gene associations mined from literature

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Human genes for Waardenburg syndrome type 2A

Waardenburg syndrome type 2A [DOID:0110950]

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 heterozygous mutation in the MITF gene on chromosome 3p13.

Synonyms:  Waardenburg syndrome type 2A,  DOID:0110950,  Waardenburg syndrome type IIA,  WS2A,  Waardenburg syndrome type IIAs

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.