Annotation Detail
Information
- Associated Genes
- INS
- Associated Variants
-
CAD c.2288-1552T>C
(
ENST00000264705.9,
ENST00000403525.5 )
GTF3C2 p.Pro782= (p.P782=) ( ENST00000264720.8, ENST00000359541.6 )
rs6547626
GCKR c.1423-418T>C ( ENST00000264717.7 )
SPATA31H1 c.145-13502T>G ( ENST00000447166.3 )
GPN1 c.*259C>G ( ENST00000264718.7, ENST00000424214.5, ENST00000458167.6, ENST00000610189.2, ENST00000616939.4 )
CAD c.2288-1552T>C ( ENST00000264705.9, ENST00000403525.5 )
GTF3C2 p.Pro782= (p.P782=) ( ENST00000264720.8, ENST00000359541.6 )
rs6547626
GCKR c.1423-418T>C ( ENST00000264717.7 )
SPATA31H1 c.145-13502T>G ( ENST00000447166.3 )
GPN1 c.*259C>G ( ENST00000264718.7, ENST00000424214.5, ENST00000458167.6, ENST00000610189.2, ENST00000616939.4 ) - Associated Disease
- Kidney Diseases
- Source Database
- DisGeNET
- Description
- In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyped six single nucleotide polymorphisms in GCKR genomic region: rs6717980, rs1049817, rs6547626, rs780094, rs2384628, and rs8731; 2) assessed clinical phenotypes, insulin sensitivity by the euglycemic insulin clamp, and β-cell function by state-of-the-art modeling of glucose/C-peptide curves during an oral glucose tolerance test; and 3) estimated glomerular filtration rate (eGFR) by the Modification of Diet in Renal Disease formula.
- Pubmed
- 21411509
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0119434423715333
- Year of publication
- 2011
Drugs