Annotation Detail

Information
Associated Genes
KCNJ11
Associated Variants
KCNJ11 MUTATION
KCNJ11 MUTATION
Associated Disease
DIABETES MELLITUS, PERMANENT NEONATAL
Source Database
DisGeNET
Description
A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus.
Pubmed
24468099
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,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT
DisGENET score for the Gene Disease association
0.56868613990657
Drugs