DISEASES

Disease-gene associations mined from literature

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Human genes for oculocutaneous albinism type IV

Oculocutaneous albinism type IV [DOID:0070098]

An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of SLC45A2 on chromosome 5p13.2.

Synonyms:  oculocutaneous albinism type IV,  DOID:0070098,  oculocutaneous albinism type IVs,  OCA4

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.