Annotation Detail
Information
- Associated Genes
- IRF5
- Associated Variants
-
BANK1 p.Arg61His (p.R61H)
(
ENST00000322953.9,
ENST00000428908.5,
ENST00000444316.2,
ENST00000504592.5,
ENST00000508653.5 )
BANK1 p.Arg61Leu (p.R61L) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 )
BANK1 p.Ala383Thr (p.A383T) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 )
BANK1 p.Arg61His (p.R61H) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 )
BANK1 p.Arg61Leu (p.R61L) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 )
BANK1 p.Ala383Thr (p.A383T) ( ENST00000322953.9, ENST00000428908.5, ENST00000444316.2, ENST00000504592.5, ENST00000508653.5 ) - Associated Disease
- systemic scleroderma
- Source Database
- DisGeNET
- Description
- To determine whether the functional BANK1 variants rs3733197 and rs10516487 are associated with systemic sclerosis (SSc) in 2 European Caucasian populations and to investigate the putative gene-gene interactions between BANK1 and IRF5 as well as STAT4.
- Pubmed
- 19877059
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.143093760301806
- Year of publication
- 2009
Drugs