Annotation Detail
Information
- Associated Genes
- ALB
- Associated Variants
-
MTR p.Asp919Gly (p.D919G)
(
ENST00000366577.10,
ENST00000535889.6,
ENST00000681177.1,
ENST00000681102.1,
ENST00000679842.1,
ENST00000674797.2 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000681177.1 ) - Associated Disease
- Kidney Failure, Chronic
- Source Database
- DisGeNET
- Description
- To evaluate the respective roles of residual glomerular filtration (by measuring a specific protein marker, cystatin C), genetic polymorphisms and nutritional status in tHcy blood levels in end-stage renal disease patients (ESRD) under hemodialysis and supplemented with folate, we measured tHcy, folate, vitamin B12 (B12), creatinine, cystatin C, albumin and C-reactive protein and determined the polymorphism of methylenetetrahydrofolate reductase (MTHFR) (C677T and A1289C) and of methionine synthase (MS) (A2756G) in 114 ESRD patients before hemodialysis and 76 control subjects.
- Pubmed
- 11592445
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.122985860592883
- Year of publication
- 2001
Drugs