Annotation Detail
Information
- Associated Genes
- GCKR
- Associated Variants
-
G6PC2 c.441-26T>C
(
ENST00000375363.8,
ENST00000421979.1,
ENST00000429379.2 )
GCKR p.Leu446Pro (p.L446P) ( ENST00000264717.7 )
G6PC2 c.441-26T>C ( ENST00000375363.8, ENST00000421979.1, ENST00000429379.2 )
GCKR p.Leu446Pro (p.L446P) ( ENST00000264717.7 ) - Associated Disease
- Diabetes Mellitus, Insulin-Dependent
- Source Database
- DisGeNET
- Description
- The study group included 129 children with GCK-MODY from the Polish Registry of Monogenic Diabetes and 395 with type 1 diabetes (T1DM), in whom we genotyped 2 SNPs in G6PC2 (rs560887) and GCKR (rs1260326).
- Pubmed
- 24918535
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2015
Drugs