DISEASES

Disease-gene associations mined from literature

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Literature associating ATP6V1G3 and autosomal dominant severe congenital neutropenia

ATP6V1G3 [ENSP00000281087]

ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3; Catalytic subunit of the peripheral V1 complex of vacuolar ATPase (V-ATPase). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Synonyms:  ATP6V1G3,  ATP6G3,  Vma10,  127124,  AAI01130.1 ...

Linkouts:  STRING  Pharos

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.