DISEASES

Disease-gene associations mined from literature

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Literature associating ACTN2 and hypertrophic cardiomyopathy

ACTN2 [ENSP00000443495]

Alpha-actinin skeletal muscle isoform 2; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein; Actinins

Synonyms:  ACTN2,  ACTN2p,  hACTN2,  ACTN2-001,  ACTN2-002 ...

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.