Annotation Detail
Information
- Associated Genes
- IL6
- Associated Variants
-
IL6 MUTATION
IL6 MUTATION
IL6ST p.Gly148Arg (p.G148R) ( ENST00000381286.7, ENST00000381293.6, ENST00000381294.8, ENST00000381298.7, ENST00000502326.7, ENST00000522633.2, ENST00000698638.1, ENST00000698639.1, ENST00000698644.1, ENST00000698645.1, ENST00000698646.1 )
IL6ST p.Gly148Arg (p.G148R) ( ENST00000381286.7, ENST00000381293.6, ENST00000381294.8, ENST00000381298.7, ENST00000502326.7, ENST00000522633.2, ENST00000698638.1, ENST00000698639.1, ENST00000698644.1, ENST00000698645.1, ENST00000698646.1 ) - Associated Disease
- systemic scleroderma
- Source Database
- DisGeNET
- Description
- We aimed to investigate whether the functional genetic variants rs8192284 and rs2228044 previously associated with several autoimmune diseases, located within the IL-6 receptor (IL-6R) subunits IL6R and IL6ST genes, respectively, are involved in the susceptibility to SSc and/or its major clinical subphenotypes.
- Pubmed
- 22742541
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0119870496332516
- Year of publication
- 2012
Drugs