Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
NEUROG3 p.Phe199Ser (p.F199S)
(
ENST00000242462.5 )
HNF1A p.Ala98Val (p.A98V) ( ENST00000400024.6, ENST00000257555.11, ENST00000544413.2, ENST00000541395.5 )
NEUROD1 p.Thr45Ala (p.T45A) ( ENST00000295108.4, ENST00000683430.1, ENST00000684079.1, ENST00000684145.1 )
NEUROG3 p.Phe199Ser (p.F199S) ( ENST00000242462.5 )
HNF1A p.Ala98Val (p.A98V) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
NEUROD1 p.Thr45Ala (p.T45A) ( ENST00000295108.4, ENST00000683430.1, ENST00000684079.1, ENST00000684145.1 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- Polymorphisms of these genes (Ala45Thr [NEUROD1], Ser199Phe [NEUROG3], and Ala98Val [TCF1]) have been postulated to influence the development of type 2 diabetes.
- Pubmed
- 15277395
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.329220362541512
- Year of publication
- 2004
Drugs