DISEASES

Disease-gene associations mined from literature

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Literature associating DEGS1 and hypomyelinating leukodystrophy

DEGS1 [ENSP00000316476]

Cell migration-inducing gene 15 protein; Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine); Fatty acid desaturases

Synonyms:  DEGS1,  DEGS1p,  hDEGS1,  A0A024R3P1,  E7EMA0 ...

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.