DISEASES

Disease-gene associations mined from literature

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Literature associating PAFAH1B3 and Miller-Dieker lissencephaly syndrome

PAFAH1B3 [ENSP00000444935]

Platelet-activating factor acetylhydrolase IB subunit gamma; Inactivates paf by removing the acetyl group at the sn-2 position. This is a catalytic subunit. Plays an important role during the development of brain; Belongs to the 'GDSL' lipolytic enzyme family. Platelet- activating factor acetylhydrolase IB beta/gamma subunits subfamily.

Synonyms:  PAFAH1B3,  A0A024R0L6,  M0QXS6,  M0QZT2,  M0R1K3 ...

Linkouts:  STRING  Pharos  UniProt

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.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.