Annotation Detail
Information
- Associated Genes
- INS
- Associated Variants
-
INS p.Cys96Ser (p.C96S), INS-IGF2 c.187+887G>C
(
ENST00000397262.5,
ENST00000381330.5,
ENST00000397270.1,
ENST00000250971.7,
ENST00000512523.1 )
INS p.Cys96Tyr (p.C96Y), INS-IGF2 c.187+887G>A ( ENST00000512523.1, ENST00000397262.5, ENST00000397270.1, ENST00000381330.5, ENST00000250971.7 )
INS p.Cys96Ser (p.C96S), INS-IGF2 c.187+887G>C ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Cys96Tyr (p.C96Y), INS-IGF2 c.187+887G>A ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 ) - Associated Disease
- hyperglycemia
- Source Database
- DisGeNET
- Description
- The Akita mouse with a missense mutation (Cys96Tyr) in the insulin 2 gene has hyperglycemia and a reduced beta-cell mass.
- Pubmed
- 14610263
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.273560747333762
- Year of publication
- 2003
Drugs