Annotation Detail
Information
- Associated Genes
- THPO
- Associated Variants
-
ICAM1 p.Gly241Arg (p.G241R)
(
ENST00000264832.8,
ENST00000423829.2 )
ICAM1 p.Lys469Glu (p.K469E) ( ENST00000264832.8, ENST00000423829.2 )
THPO SNV
THPO p.Gly240Arg (p.G240R) ( ENST00000421442.2, ENST00000445696.6, ENST00000645603.2, ENST00000647395.1, ENST00000649095.1, ENST00000650229.1 )
ICAM1 p.Gly241Arg (p.G241R) ( ENST00000264832.8, ENST00000423829.2 )
ICAM1 p.Lys469Glu (p.K469E) ( ENST00000264832.8, ENST00000423829.2 )
THPO SNV
THPO p.Gly240Arg (p.G240R) ( ENST00000421442.2, ENST00000445696.6, ENST00000645603.2, ENST00000647395.1, ENST00000649095.1, ENST00000650229.1 ) - Associated Disease
- Graves Disease
- Source Database
- DisGeNET
- Description
- Although there is not association between ICAM1 (G241R and K469E), VCAM1 (T-1591C and T-833C), and E-selectin (S128R) SNPs and susceptibility to GD, higher anti-TPO in E-selectin 128 SR + RR, and lower TSH in ICAM1 469 KE + EE subjects suspect that these genotypes are prone to increased antithyroid autoantibody production with more accentuated TSH suppression in GD.
- Pubmed
- 23242661
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2012
Drugs