Annotation Detail
Information
- Associated Genes
- ABCB1
- Associated Variants
-
ABCB1 p.Ile1145= (p.I1145=)
(
ENST00000265724.8,
ENST00000543898.5,
ENST00000622132.5 )
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Gly412= (p.G412=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Gly412= (p.G412=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 ) - Associated Disease
- familial Mediterranean fever
- Source Database
- DisGeNET
- Description
- Association analysis of three ABCB1 (MDR1) gene variants (C1236T, G2677A/T and C3435T) and their genotype/haplotype combinations with the familial Mediterranean fever.
- Pubmed
- 24773260
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00672003345355102
- Year of publication
- 2015
Drugs