DISEASES

Disease-gene associations mined from literature

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Literature associating HSD17B4 and hypomyelinating leukodystrophy 5

HSD17B4 [ENSP00000420914]

Short chain dehydrogenase/reductase family 8C member 1; Bifunctional enzyme acting on the peroxisomal beta- oxidation pathway for fatty acids. Catalyzes the formation of 3- ketoacyl-CoA intermediates from both straight-chain and 2-methyl- branched-chain fatty acids; Short chain dehydrogenase/reductase superfamily

Synonyms:  HSD17B4,  HSD17B4p,  hHSD17B4,  E7EPL9,  E7ER27 ...

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.