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GENE - TERM ANNOTATION REPORT

RGD ID: 62387
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pdx1
Name: pancreatic and duodenal homeobox 1
Acc ID: DOID:0060639
Term: permanent neonatal diabetes mellitus
Definition: A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17213273 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Pdx1 ISOPDX1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Permanent neonatal diabetes mellitusPMID:12970316 PMID:15001545 PMID:19496967 PMID:20009086 PMID:20621032 PMID:25741868 PMID:26467025 PMID:28436541 PMID:28492532 PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577
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