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GENE - TERM ANNOTATION REPORT

RGD ID: 14182005
Species: Sus scrofa
RGD Object: Gene
Symbol: UGDH
Name: UDP-glucose 6-dehydrogenase
Acc ID: DOID:0112219
Term: developmental and epileptic encephalopathy 84
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/32001716/ "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)
UGDH ISOUGDH (Homo sapiens)7240710OMIM  
UGDH ISOUGDH (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 84PMID:25741868 PMID:32001716 PMID:32860008
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