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GENE - TERM ANNOTATION REPORT

RGD ID: 1564726
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Zfp341
Name: zinc finger protein 341
Acc ID: DOID:0111039
Term: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Definition: A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15024124 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/2380820 "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)
Zfp341 ISOZNF341 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolasePMID:15024124 PMID:20852937 PMID:28492532
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