DISEASES

Disease-gene associations mined from literature

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Literature associating PRPF31 and congenital stationary night blindness

PRPF31 [ENSP00000324122]

Serologically defined breast cancer antigen NY-BR-99; Involved in pre-mRNA splicing. Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome; U4/U6 small nucleolar ribonucleoprotein

Synonyms:  PRPF31,  PRPF31p,  hPRPF31,  PRPF31-001,  PRPF31-003 ...

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.