DISEASES

Disease-gene associations mined from literature

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Literature associating C21orf2 and Leber congenital amaurosis

C21orf2 [ENSP00000381047]

Leucine-rich repeat-containing protein 76; Plays a role in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Involved in DNA damage repair.

Synonyms:  C21orf2,  C21orf2p,  hC21orf2,  C21ORF2,  D3DSL5 ...

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.