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
- diabetes mellitus
- Source Database
- DisGeNET
- Description
- Thus, Munich Ins2(C95S) mutant mice are considered a valuable model to study the mechanisms of beta-cell dysfunction and death during the development of diabetes.
- Pubmed
- 17303807
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.295274146663208
- Year of publication
- 2007
Drugs