DISEASES

Disease-gene associations mined from literature

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Literature associating PRPS1 and syndromic X-linked intellectual disability

PRPS1 [ENSP00000361512]

Phosphoribosyl pyrophosphate synthetase 1; Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis; Belongs to the ribose-phosphate pyrophosphokinase family.

Synonyms:  PRPS1,  PRPS1p,  hPRPS1,  B1ALA7,  B1ALA9 ...

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.