DISEASES

Disease-gene associations mined from literature

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Literature associating ATXN2 and spinocerebellar ataxia type 7

ATXN2 [ENSP00000366843]

Trinucleotide repeat-containing gene 13 protein; Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane; Ataxins

Synonyms:  ATXN2,  ATXN2p,  hATXN2,  D2CTA3,  D2CTA5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM

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.