Annotation Detail
Information
- Associated Genes
- PTPN22
- Associated Variants
-
HLA-DRB1 p.Gly49Ala (p.G49A)
(
ENST00000360004.6 )
HLA-DRB1 p.Gly49Ala (p.G49A) ( ENST00000360004.6 ) - Associated Disease
- hyperthyroidism
- Source Database
- DisGeNET
- Description
- Evaluation of genotypes (HLA DRB1*03, DQA1*05, DQB1*02; CTLA4 49A/G, CT60 A/G; PTPN22 C/T) in relation to phenotypes (age, sex, severity (clinical, biochemical, and immunological)) of hyperthyroidism and environmental factors (smoking, stress questionnaires).
- Pubmed
- 22968483
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2012
Drugs