Annotation Detail
Information
- Associated Genes
- TFR2
- Associated Variants
-
HAMP c.-84-498A>G
(
ENST00000598398.5 )
FTL p.Leu55= (p.L55=) ( ENST00000331825.11 )
NC_000020.11:g.6786464A>G
TMPRSS6 p.Ser352= (p.S352=) ( ENST00000346753.9, ENST00000381792.6, ENST00000406725.6, ENST00000406856.7, ENST00000442782.7, ENST00000676104.1 )
SLC40A1 c.44-24G>C ( ENST00000261024.7 )
TFR2 p.Arg752His (p.R752H) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 )
HAMP c.-84-498A>G ( ENST00000598398.5 )
FTL p.Leu55= (p.L55=) ( ENST00000331825.11 )
NC_000020.11:g.6786464A>G
TMPRSS6 p.Ser352= (p.S352=) ( ENST00000346753.9, ENST00000381792.6, ENST00000406725.6, ENST00000406856.7, ENST00000442782.7, ENST00000676104.1 )
SLC40A1 c.44-24G>C ( ENST00000261024.7 )
TFR2 p.Arg752His (p.R752H) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 ) - Associated Disease
- Hereditary hemochromatosis
- Source Database
- DisGeNET
- Description
- We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene, rs2230267 in FTL gene, rs1439816 in SLC40A1 gene, rs41295942 in TFR2 gene and rs2111833 in TMPRSS6 gene) with uncertain function in order to further evaluate their role in an independent cohort of 109 HH type 1 patients.
- Pubmed
- 25976471
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.125428837441606
- Year of publication
- 2015
Drugs