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
- diarrhea
- Source Database
- DisGeNET
- Description
- One variant, a common functional single-nucleotide polymorphism (SNP) in the ABCG2 gene, was associated with diarrhea in 124 patients treated with oral gefitinib 250 mg once daily; seven (44%) of 16 patients heterozygous for ABCG2 421C>A (Q141K) developed diarrhea, versus only 13 (12%) of 108 patients homozygous for the wild-type sequence (P = .0046).
- Pubmed
- 17148776
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00609127331760558
- Year of publication
- 2006
Drugs