Annotation Detail

Information
Associated Genes
CD40
Associated Variants
CD40 p.Met1= (p.M1=) ( ENST00000372276.7, ENST00000372285.8, ENST00000695671.1 )
CD40LG p.Leu50= (p.L50=) ( ENST00000370628.2, ENST00000370629.7, ENST00000695724.1, ENST00000695725.1 )
CD40 p.Met1= (p.M1=) ( ENST00000372276.7, ENST00000372285.8, ENST00000695671.1 )
CD40LG p.Leu50= (p.L50=) ( ENST00000370628.2, ENST00000370629.7, ENST00000695724.1, ENST00000695725.1 )
Associated Disease
Osteopenia/osteoporosis
Source Database
DisGeNET
Description
Results showed that women with TT genotype for rs1883832 (CD40) and for rs1126535 (CD40L) SNPs displayed reduced BMD and increased risk for osteopenia/osteoporosis.
Pubmed
20577873
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2011
Drugs