DISEASES

Disease-gene associations mined from literature

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Literature associating PRPSAP1 and Bardet-Biedl syndrome 7

PRPSAP1 [ENSP00000414624]

39 kDa phosphoribosypyrophosphate synthase-associated protein; Seems to play a negative regulatory role in 5- phosphoribose 1-diphosphate synthesis.

Synonyms:  PRPSAP1,  PRPSAP1p,  hPRPSAP1,  A0A024R8M4,  B4DP31 ...

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.