DISEASES

Disease-gene associations mined from literature

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Literature associating ABHD5 and lipid storage disease

ABHD5 [ENSP00000390849]

1-acylglycerol-3-phosphate O-acyltransferase ABHD5; Lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis. May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2. Involved in keratinocyte differentiation. Regulates lipid droplet fusion (By similarity); Abhydrolase domain containing

Synonyms:  ABHD5,  ABHD5p,  hABHD5,  ABHD5-001,  ABHD5-002 ...

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.