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.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.Gly90Cys (p.G90C), INS-IGF2 c.187+868G>T ( ENST00000397270.1, ENST00000381330.5, ENST00000397262.5, ENST00000250971.7, ENST00000512523.1 )
INS p.Arg89Cys (p.R89C), INS-IGF2 c.187+865C>T ( ENST00000397262.5, ENST00000397270.1, ENST00000381330.5, ENST00000250971.7, ENST00000512523.1 )
INS p.Phe48Cys (p.F48C), INS-IGF2 p.Phe48Cys (p.F48C) ( ENST00000512523.1, ENST00000397262.5, ENST00000381330.5, ENST00000397270.1, ENST00000250971.7 )
INS p.Phe48Ser (p.F48S), INS-IGF2 p.Phe48Ser (p.F48S) ( ENST00000397270.1, ENST00000381330.5, ENST00000397262.5, ENST00000250971.7, ENST00000512523.1 )
INS p.Gly47Val (p.G47V), INS-IGF2 p.Gly47Val (p.G47V) ( ENST00000512523.1, ENST00000397270.1, ENST00000381330.5, ENST00000397262.5, ENST00000250971.7 )
INS p.Cys43Gly (p.C43G), INS-IGF2 p.Cys43Gly (p.C43G) ( ENST00000512523.1, ENST00000250971.7, ENST00000381330.5, ENST00000397270.1, ENST00000397262.5 )
INS p.Gly32Arg (p.G32R), INS-IGF2 p.Gly32Arg (p.G32R) ( ENST00000512523.1, ENST00000397262.5, ENST00000381330.5, ENST00000397270.1, ENST00000250971.7 )
INS p.Gly32Ser (p.G32S), INS-IGF2 p.Gly32Ser (p.G32S) ( ENST00000512523.1, ENST00000397270.1, ENST00000381330.5, ENST00000397262.5, ENST00000250971.7 )
INS p.Ala24Val (p.A24V), INS-IGF2 p.Ala24Val (p.A24V) ( ENST00000397262.5, ENST00000397270.1, ENST00000381330.5, ENST00000250971.7, ENST00000512523.1 )
INS p.Ala24Asp (p.A24D), INS-IGF2 p.Ala24Asp (p.A24D) ( ENST00000250971.7, ENST00000397262.5, ENST00000397270.1, ENST00000381330.5, ENST00000512523.1 )
INS p.Tyr108Cys (p.Y108C), INS-IGF2 c.187+923A>G ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
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 )
INS p.Gly90Cys (p.G90C), INS-IGF2 c.187+868G>T ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Arg89Cys (p.R89C), INS-IGF2 c.187+865C>T ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Phe48Cys (p.F48C), INS-IGF2 p.Phe48Cys (p.F48C) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Phe48Ser (p.F48S), INS-IGF2 p.Phe48Ser (p.F48S) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Gly47Val (p.G47V), INS-IGF2 p.Gly47Val (p.G47V) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Cys43Gly (p.C43G), INS-IGF2 p.Cys43Gly (p.C43G) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Gly32Arg (p.G32R), INS-IGF2 p.Gly32Arg (p.G32R) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Gly32Ser (p.G32S), INS-IGF2 p.Gly32Ser (p.G32S) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Ala24Val (p.A24V), INS-IGF2 p.Ala24Val (p.A24V) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Ala24Asp (p.A24D), INS-IGF2 p.Ala24Asp (p.A24D) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 ) - Associated Disease
- DIABETES MELLITUS, PERMANENT NEONATAL
- Source Database
- DisGeNET
- Description
- Insulin gene mutations as a cause of permanent neonatal diabetes.
- Pubmed
- 17855560
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.568414698034489
- Year of publication
- 2007
Drugs