DISEASES

Disease-gene associations mined from literature

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Literature associating PSAP and progressive myoclonus epilepsy 4

PSAP [ENSP00000378394]

Proactivator polypeptide; Saposins are specific low-molecular mass non-enzymic proteins, they participate in the lysosomal degradation of sphingolipids, which takes place by the sequential action of specific hydrolases; Endogenous ligands

Synonyms:  PSAP,  A0A024QZQ2,  C9JIZ6,  P07602,  Q5BJH1 ...

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.