Annotation Detail
Information
- Associated Genes
- ABCC2
- Associated Variants
-
ABCC2 p.Val417Ile (p.V417I)
(
ENST00000647814.1 )
ABCB1 p.Ser893Ala (p.S893A) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ser893Thr (p.S893T) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCC2 p.Val417Ile (p.V417I) ( ENST00000647814.1 )
ABCB1 p.Ser893Ala (p.S893A) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ser893Thr (p.S893T) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 ) - Associated Disease
- Clear-cell metastatic renal cell carcinoma
- Source Database
- DisGeNET
- Description
- The DNA of all patients was genotyped for ABCB1 -2352G>A, -692T>C, 2677G>T/A (Ala893Ser/Thr), and 3435C>T, and ABCC2 -24C>T, 1249G>A (Val417Ile) and 3972C>T. ABCB1 and ABCC2 were less expressed in CCRCC than in normal cortex on mRNA as well as on protein level.
- Pubmed
- 16788565
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2007
Drugs