Annotation Detail
Information
- Associated Genes
- INS
- Associated Variants
-
KCNJ11 p.Arg201Leu (p.R201L)
(
ENST00000528731.1,
ENST00000339994.5,
ENST00000682350.1,
ENST00000682764.1 )
KCNJ11 p.Arg201His (p.R201H) ( ENST00000682764.1, ENST00000682350.1, ENST00000339994.5, ENST00000528731.1 )
KCNJ11 p.Arg201Leu (p.R201L) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Arg201His (p.R201H) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- DIABETES MELLITUS, PERMANENT NEONATAL
- Source Database
- DisGeNET
- Description
- Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal diabetes mellitus due to an R201H mutation in the KCNJ11 gene: a case report.
- Pubmed
- 23434183
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.568414698034489
- Year of publication
- 2013
Drugs