DISEASES

Disease-gene associations mined from literature

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Literature associating ATP6V0A4 and autosomal recessive osteopetrosis 7

ATP6V0A4 [ENSP00000308122]

V-type proton ATPase 116 kDa subunit a isoform 4; Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney.

Synonyms:  ATP6V0A4,  A0A024R791,  A0A2R8Y6X9,  A0A2R8Y7G6,  A0A2R8YE46 ...

Linkouts:  STRING  Pharos  UniProt

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.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.