Annotation Detail
Information
- Associated Genes
- ABCC8
- Associated Variants
-
ABCC8 MUTATION
ABCC8 MUTATION
ABCC8 p.Leu225Pro (p.L225P) ( ENST00000302539.9, ENST00000644772.1, ENST00000646902.1, ENST00000643260.1, ENST00000684571.1, ENST00000389817.8, ENST00000683136.1, ENST00000647015.1, ENST00000642271.1 )
ABCC8 p.Leu225Pro (p.L225P) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 ) - Associated Disease
- DIABETES MELLITUS, PERMANENT NEONATAL
- Source Database
- DisGeNET
- Description
- A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM).
- Pubmed
- 17317760
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.483800186209124
- Year of publication
- 2007
Drugs