Annotation Detail

Information
Associated Genes
INS
Associated Variants
INS MUTATION
INS MUTATION
Associated Disease
Neonatal diabetes mellitus
Source Database
DisGeNET
Description
In permanent neonatal diabetes (PNDM) patients, homozygous GCK (n=6), EIF2AK3 (n=3), PTF1A (n=3), and INS (n=1) and heterozygous KCNJ11 (n=2) mutations were identified.
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
8
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0198152566618621
Drugs