Annotation Detail
Information
- Associated Genes
- ABCG2
- Associated Variants
-
ABCG2 p.Gln141Lys (p.Q141K)
(
ENST00000237612.8,
ENST00000515655.5,
ENST00000650821.1 )
ABCG2 p.Gln141Lys (p.Q141K) ( ENST00000237612.8, ENST00000515655.5, ENST00000650821.1 ) - Associated Disease
- hyperuricemia
- Source Database
- DisGeNET
- Description
- The multidrug ATP-binding cassette, subfamily G, 2 (ABCG2) transporter was recently identified as an important human urate transporter, and a common mutation, a Gln to Lys substitution at position 141 (Q141K), was shown to cause hyperuricemia and gout.
- Pubmed
- 23493553
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.013811197867693
- Year of publication
- 2013
Drugs