DISEASES

Disease-gene associations mined from literature

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Literature associating SLC7A3 and Loeys-Dietz syndrome

SLC7A3 [ENSP00000363417]

Cationic amino acid transporter 3; Mediates the uptake of the cationic amino acids arginine, lysine and ornithine in a sodium-independent manner. ; Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.

Synonyms:  SLC7A3,  SLC7A3p,  hSLC7A3,  Q8WY07,  Q8WY07p ...

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.