DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Literature associating ABHD12 and PHARC syndrome

ABHD12 [ENSP00000365725]

Abhydrolase domain-containing protein 12; Lysophosphatidylserine (LPS) lipase that plays a key role in the central nervous system. Represents a major LPS lipase in the brain (By similarity). May also have a 2- arachidonoylglycerol (2-AG) hydrolase activity and act as a regulator of endocannabinoid signaling pathways; Abhydrolase domain containing

Synonyms:  ABHD12,  ABHD12p,  hABHD12,  ABHD12-001,  ABHD12-002 ...

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.