DISEASES

Disease-gene associations mined from literature

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Literature associating SLC6A12 and reflex epilepsy

SLC6A12 [ENSP00000399136]

Sodium- and chloride-dependent betaine transporter; Transports betaine and GABA. May have a role in regulation of GABAergic transmission in the brain through the reuptake of GABA into presynaptic terminals, as well as in osmotic regulation.

Synonyms:  SLC6A12,  SLC6A12p,  hSLC6A12,  F5H2T6,  F5H4L6 ...

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.