DISEASES

Disease-gene associations mined from literature

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Literature associating LRRC48 and Potocki-Lupski syndrome

LRRC48 [ENSP00000382140]

Leucine-rich repeat-containing protein 48; Key component of the nexin-dynein regulatory complex (N- DRC), a key regulator of ciliary motility.

Synonyms:  LRRC48,  LRRC48p,  hLRRC48,  DRC3,  J3KRB8 ...

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.