DISEASES

Disease-gene associations mined from literature

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Human genes for Hermansky-Pudlak syndrome 2

Hermansky-Pudlak syndrome 2 [DOID:0060540]

A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1.

Synonyms:  Hermansky-Pudlak syndrome 2,  DOID:0060540,  HermanskyPudlak syndrome 2

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.