Annotation Detail

Information
Associated Genes
CDKAL1
Associated Variants
CDKAL1 c.371+30101A>G ( ENST00000274695.8, ENST00000378610.1 )
SLC30A8 p.Arg325Trp (p.R325W) ( ENST00000427715.2, ENST00000456015.7, ENST00000519688.5, ENST00000521243.5 )
CDKAL1 c.371+30101A>G ( ENST00000274695.8, ENST00000378610.1 )
SLC30A8 p.Arg325Trp (p.R325W) ( ENST00000456015.7, ENST00000519688.5, ENST00000521243.5, ENST00000427715.2 )
Associated Disease
Diabetes Mellitus, Non-Insulin-Dependent
Source Database
DisGeNET
Description
Individuals carrying T2D risk alleles of CDKAL1 or SLC30A8 had lower fasting plasma insulin level (rs7756992 P = 0.003) or lower basal insulin secretion (rs13266634 P = 0.0005), respectively, than non-carriers.
Pubmed
18210030
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.420629582278103
Year of publication
2008
Drugs