DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Literature associating GABRG3 and oculocutaneous albinism type II

GABRG3 [ENSP00000479113]

Gamma-aminobutyric acid receptor subunit gamma-3; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel; Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG3 sub- subfamily.

Synonyms:  GABRG3,  GABRG3p,  hGABRG3,  A0A0A0MR73,  H0YJ81 ...

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.