DISEASES

Disease-gene associations mined from literature

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Literature associating EIF2B3 and hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism

EIF2B3 [ENSP00000353575]

Eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa; Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP; Belongs to the eIF-2B gamma/epsilon subunits family.

Synonyms:  EIF2B3,  EIF2B3p,  hEIF2B3,  EIF2B3-001,  EIF2B3-002 ...

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.