Annotation Detail
Information
- Associated Genes
- HFE
- Associated Variants
-
TFRC p.Gly142Ser (p.G142S)
(
ENST00000360110.9,
ENST00000392396.7,
ENST00000420415.5,
ENST00000698280.1,
ENST00000698283.1,
ENST00000698285.1,
ENST00000698286.1,
ENST00000698290.1,
ENST00000698291.1,
ENST00000698295.1 )
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 )
TFRC p.Gly142Ser (p.G142S) ( ENST00000360110.9, ENST00000392396.7, ENST00000420415.5, ENST00000698280.1, ENST00000698283.1, ENST00000698285.1, ENST00000698286.1, ENST00000698290.1, ENST00000698291.1, ENST00000698295.1 )
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
- Carcinogenesis
- Source Database
- DisGeNET
- Description
- Iron metabolism has been implicated in carcinogenesis and several studies assessed the potential role of genetic variants of proteins involved in iron metabolism (HFE C282Y, TFR S142G) in different malignancies.
- Pubmed
- 19258483
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2009
Drugs