DISEASES

Disease-gene associations mined from literature

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Literature associating ANKRD13A and atrial heart septal defect 5

ANKRD13A [ENSP00000261739]

Ankyrin repeat domain-containing protein 13A; Ubiquitin-binding protein that specifically recognizes and binds 'Lys-63'-linked ubiquitin. Does not bind 'Lys-48'-linked ubiquitin. Positively regulates the internalization of ligand- activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane; Ankyrin repeat domain containing

Synonyms:  ANKRD13A,  ANKRD13,  ANKRD13-001,  ANKRD13-002,  ANKRD13-004 ...

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.