Annotation Detail

Information
Associated Genes
MBL2
Associated Variants
MBL2 p.Gly54Asp (p.G54D) ( ENST00000674931.1, ENST00000373968.3, ENST00000675947.1 )
MBL2 p.Gly54Asp (p.G54D) ( ENST00000373968.3, ENST00000674931.1, ENST00000675947.1 )
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
0.0731772750279901
Year of publication
2011
Drugs