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GENE - TERM ANNOTATION REPORT

RGD ID: 2046
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Adk
Name: adenosine kinase
Acc ID: DOID:0111038
Term: hypermethioninemia due to adenosine kinase deficiency
Definition: A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17120046 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21963049 "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)
Adk ISOADK (Homo sapiens)7240710OMIM  
Adk ISOADK (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:21963049
Adk ISOADK (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532
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