Annotation Detail
Information
- Associated Genes
- INS
- Associated Variants
-
KCNJ11 p.Gly53Asp (p.G53D)
(
ENST00000528731.1,
ENST00000682764.1,
ENST00000682350.1,
ENST00000339994.5 )
KCNJ11 p.Gly53Asp (p.G53D) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- diabetes mellitus
- Source Database
- DisGeNET
- Description
- A 29-year-old male patient was diagnosed with diabetes in the third month of life and after identification of a heterozygous p.G53D mutation in the KCNJ11 gene, the therapy was switched from insulin to sulfonylurea.
- Pubmed
- 21340152
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.295274146663208
- Year of publication
- 2010
Drugs