DISEASES

Disease-gene associations mined from literature

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Human genes for Hermansky-Pudlak syndrome 9

Hermansky-Pudlak syndrome 9 [DOID:0060547]

A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21.

Synonyms:  Hermansky-Pudlak syndrome 9,  DOID:0060547,  HermanskyPudlak syndrome 9

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.