Annotation Detail

Information
Associated Genes
BANK1
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.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 )
Associated Disease
Lupus Erythematosus, Systemic
Source Database
DisGeNET
Description
[The genetic contribution towards predicting early-onset disease in patients with SLE is quantified for the first time. A more severe SLE phenotype is found in patients with early-onset disease in a large multi-racial cohort, independent of gender, race an]
Pubmed
20881011
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.264646466664167
Year of publication
2011
Drugs