Annotation Detail

Information
Associated Genes
ABCC8
Associated Variants
ABCC8 MUTATION
ABCC8 MUTATION
Associated Disease
Neonatal diabetes mellitus
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,CLINVAR
DisGENET score for the Gene Disease association
0.133029209859855
Drugs