Annotation Detail
Information
- Associated Genes
- ABCC8
- Associated Variants
-
ABCC8 MUTATION
ABCC8 MUTATION
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000528731.1, ENST00000339994.5, ENST00000682350.1, ENST00000682764.1 )
ABCC8 p.Ala1391Ser (p.A1391S) ( ENST00000646902.1, ENST00000644772.1, ENST00000302539.9, ENST00000389817.8, ENST00000684571.1, ENST00000643260.1, ENST00000647015.1, ENST00000683136.1, ENST00000642271.1 )
ABCC8 p.Ala1391Thr (p.A1391T) ( ENST00000644772.1, ENST00000646902.1, ENST00000302539.9, ENST00000684571.1, ENST00000389817.8, ENST00000643260.1, ENST00000647015.1, ENST00000683136.1, ENST00000642271.1 )
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
ABCC8 p.Ala1391Ser (p.A1391S) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
ABCC8 p.Ala1391Thr (p.A1391T) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 ) - Associated Disease
- diabetes mellitus
- Source Database
- DisGeNET
- Description
- Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabetes Mellitus 2 Type Cohort and Meta-Analysis.
- Pubmed
- 25955821
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0207689974532702
- Year of publication
- 2015
Drugs