Annotation Detail

Information
Associated Genes
ABCC8
Associated Variants
ABCC8 MUTATION
ABCC8 MUTATION
Associated Disease
Organic acidemias
Source Database
DisGeNET
Description
Neonatal diabetes mellitus due to a novel ABCC8 gene mutation mimicking an organic acidemia.
Pubmed
23783767
Section of the abstract supporting the evidence
TITLE
Number of the section of the abstract supporting the evidence
0
Number of the sentence supporting the evidence
0
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs