Annotation Detail

Information
Associated Genes
ABCC8
Associated Variants
ABCC8 MUTATION
ABCC8 MUTATION
Associated Disease
Diabetes mellitus, transient neonatal, 1
Source Database
DisGeNET
Description
In transient neonatal diabetes (TNDM) patients, the genetic cause included chromosome 6q24 abnormalities (n=3), ABCC8 (n=1) and homozygous INS (n=1).
Pubmed
25755231
Section of the abstract supporting the evidence
RESULTS
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
7
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00135720936040152
Drugs