Annotation Detail
Information
- Associated Genes
- TMPRSS6
- Associated Variants
-
SLC11A2 c.50-1805A>T
(
ENST00000643884.1,
ENST00000644495.1,
ENST00000547198.5,
ENST00000541174.6,
ENST00000394904.9,
ENST00000547688.7,
ENST00000546743.5,
ENST00000262052.9 )
TMPRSS6 p.Val749Ala (p.V749A) ( ENST00000346753.9, ENST00000381792.6, ENST00000406725.6, ENST00000406856.7, ENST00000676104.1 )
TMPRSS6 p.Val749Asp (p.V749D) ( ENST00000346753.9, ENST00000381792.6, ENST00000406725.6, ENST00000406856.7, ENST00000676104.1 )
TMPRSS6 c.203-462A>G ( ENST00000346753.9, ENST00000381792.6, ENST00000406725.6, ENST00000406856.7, ENST00000442782.7, ENST00000676104.1 )
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.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 )
SLC11A2 c.50-1805A>T ( ENST00000262052.9, ENST00000394904.9, ENST00000541174.6, ENST00000546743.5, ENST00000547198.5, ENST00000547688.7, ENST00000643884.1, ENST00000644495.1 )
TMPRSS6 p.Val749Ala (p.V749A) ( ENST00000346753.9, ENST00000381792.6, ENST00000406725.6, ENST00000406856.7, ENST00000676104.1 )
TMPRSS6 p.Val749Asp (p.V749D) ( ENST00000346753.9, ENST00000381792.6, ENST00000406725.6, ENST00000406856.7, ENST00000676104.1 )
TMPRSS6 c.203-462A>G ( ENST00000346753.9, ENST00000381792.6, ENST00000406725.6, ENST00000406856.7, ENST00000442782.7, ENST00000676104.1 )
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.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
- Leukemia, Lymphocytic, Acute, L1
- Source Database
- DisGeNET
- Description
- Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL.
- Pubmed
- 25085015
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs