Permanent neonatal diabetes mellitus Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment. (Orphanet Rare Disease Ontology, Orphanet_99885)
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3 genes associated with the Permanent neonatal diabetes mellitus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
GCK glucokinase (hexokinase 4)
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11