Annotation Detail
Information
- Associated Genes
- SLC19A1
- Associated Variants
-
SLC19A1 MUTATION
SLC19A1 MUTATION
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 )
ATIC p.Thr116Ser (p.T116S) ( ENST00000236959.14, ENST00000435675.5 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 )
ATIC p.Thr116Ser (p.T116S) ( ENST00000236959.14, ENST00000435675.5 ) - Associated Disease
- rheumatoid arthritis
- Source Database
- DisGeNET
- Description
- We investigated the contribution of common genetic polymorphisms in RFC-1 (G80A), ATIC (C347G), and TS (28-bp tandem repeats located in the TS enhancer region [TSER*2/*3]) and of MTXPGs to the effect of MTX in patients with rheumatoid arthritis.
- Pubmed
- 15457444
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0199982790987475
- Year of publication
- 2004
Drugs