Annotation Detail
Information
- Associated Genes
- INS
- Associated Variants
-
INS p.Tyr108Cys (p.Y108C), INS-IGF2 c.187+923A>G
(
ENST00000250971.7,
ENST00000397270.1,
ENST00000381330.5,
ENST00000397262.5,
ENST00000512523.1 )
INS p.Tyr108Cys (p.Y108C), INS-IGF2 c.187+923A>G ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 ) - Associated Disease
- Neonatal diabetes mellitus
- Source Database
- DisGeNET
- Description
- Permanent neonatal diabetes in siblings with novel C109Y INS mutation transmitted by an unaffected parent with somatic mosaicism.
- Pubmed
- 24279684
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0198152566618621
- Year of publication
- 2013
Drugs