DISEASES

Disease-gene associations mined from literature

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Human genes for oculocutaneous albinism type IB

Oculocutaneous albinism type IB [DOID:0070095]

An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity.

Synonyms:  oculocutaneous albinism type IB,  DOID:0070095,  oculocutaneous albinism type IBs,  Albinism, Yellow Mutant Type,  OCA1B ...

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.