Annotation Detail
Information
- Associated Genes
- CTLA4
- Associated Variants
-
CTLA4 MUTATION
CTLA4 MUTATION
STAT4 c.274-23582A>C ( ENST00000392320.7, ENST00000358470.8, ENST00000413064.6, ENST00000432798.2, ENST00000450994.2, ENST00000714287.1 )
rs733618 ( ENST00000696479.1 )
STAT4 c.274-23582A>C ( ENST00000358470.8, ENST00000392320.7, ENST00000413064.6, ENST00000432798.2, ENST00000450994.2, ENST00000714287.1 )
rs733618 ( ENST00000696479.1 ) - Associated Disease
- systemic scleroderma
- Source Database
- DisGeNET
- Description
- We examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated antigen 4 (CTLA-4) -1722T/C, CTLA-4 -318C/T, CTLA-4 +49A/G, angiotensin-converting enzyme I/D, STAT-4 rs7574865] and susceptibility to SSc.
- Pubmed
- 22173230
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0249899722313061
- Year of publication
- 2012
Drugs