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GENE - TERM ANNOTATION REPORT

RGD ID: 620682
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tfam
Name: transcription factor A, mitochondrial
Acc ID: DOID:0080337
Term: mitochondrial DNA depletion syndrome 15
Definition: A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A gene on chromosome 10q21. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/gene/TFAM#conditions "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/27448789 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/28215579 "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)
Tfam ISOTFAM (Homo sapiens)7240710OMIM  
Tfam ISOTFAM (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)PMID:25741868 PMID:27448789 PMID:28492532
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