Annotation Detail
Information
- Associated Genes
- HFE
- Associated Variants
-
GSTP1 c.[313A>G;341=]
(
ENST00000398606.10 )
HFE p.His63Asp (p.H63D) ( ENST00000309234.11, ENST00000317896.11, ENST00000336625.12, ENST00000349999.8, ENST00000352392.8, ENST00000353147.9, ENST00000357618.10, ENST00000397022.7, ENST00000461397.6, ENST00000470149.5, ENST00000485729.2, ENST00000488199.5, ENST00000714164.1, ENST00000714170.1, ENST00000714172.1, ENST00000714174.1 )
HFE p.Cys282Tyr (p.C282Y) ( ENST00000357618.10, ENST00000349999.8, ENST00000353147.9, ENST00000488199.5, ENST00000397022.7, ENST00000352392.8, ENST00000470149.5, ENST00000317896.11, ENST00000309234.11, ENST00000461397.6, ENST00000336625.12, ENST00000485729.2, ENST00000714164.1, ENST00000714170.1, ENST00000714172.1, ENST00000714174.1 )
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
HFE p.His63Asp (p.H63D) ( ENST00000309234.11, ENST00000317896.11, ENST00000336625.12, ENST00000349999.8, ENST00000352392.8, ENST00000353147.9, ENST00000357618.10, ENST00000397022.7, ENST00000461397.6, ENST00000470149.5, ENST00000485729.2, ENST00000488199.5, ENST00000714164.1, ENST00000714170.1, ENST00000714172.1, ENST00000714174.1 )
HFE p.Cys282Tyr (p.C282Y) ( ENST00000309234.11, ENST00000317896.11, ENST00000336625.12, ENST00000349999.8, ENST00000352392.8, ENST00000353147.9, ENST00000357618.10, ENST00000397022.7, ENST00000461397.6, ENST00000470149.5, ENST00000485729.2, ENST00000488199.5, ENST00000714164.1, ENST00000714170.1, ENST00000714172.1, ENST00000714174.1 ) - Associated Disease
- hemochromatosis
- Source Database
- DisGeNET
- Description
- Our objective was to examine whether functional polymorphisms in hemochromatosis (HFE; H63D and C282Y), transferrin (TfC2), and glutathione-s-transferase Pi1 (GSTP1; Ile105Val) genes modify any lead-ALS association.
- Pubmed
- 25293352
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2015
Drugs