Annotation Detail

Information
Associated Genes
GCK
Associated Variants
HNF1A p.Ile27Leu (p.I27L) ( ENST00000541395.5, ENST00000257555.11, ENST00000400024.6, ENST00000544413.2 )
HNF1A p.Ile27Leu (p.I27L) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
Associated Disease
Diabetes Mellitus, Non-Insulin-Dependent
Source Database
DisGeNET
Description
Clinical differences between patients with MODY-3, MODY-2 and type 2 diabetes mellitus with I27L polymorphism in the HNF1alpha gene.
Pubmed
20172480
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.415172220683951
Year of publication
2010
Drugs