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GENE - TERM ANNOTATION REPORT

RGD ID: 620560
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mt-nd5
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
Acc ID: DOID:3687
Term: MELAS syndrome
Definition: A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes#genes "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)
Mt-nd5 ISOMT-ND5 (Homo sapiens)5491173RGDDNA:mutations:exons:p. D393N, M237T (human) 
Mt-nd5 ISOMT-ND5 (Homo sapiens)5491184RGDDNA:mutation:exon:m.13849A>C (N505H)(human)  
Mt-nd5 ISOMT-ND5 (Homo sapiens)5507825RGDDNA:mutation:exon:m.13513G>A (D393N)(human) 
Mt-nd5 ISOMT-ND5 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Mt-nd5 ISOMT-ND5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodesPMID:10589546 PMID:11102991 PMID:11198278 PMID:12509858 PMID:12624137 PMID:12796552 PMID:14520659 PMID:14730434 PMID:15521990 PMID:15767514 PMID:16306525 PMID:16816025 PMID:17400793 PMID:17940288 PMID:18332249 PMID:18977334 PMID:20018511 PMID:22022272 PMID:22249460 PMID:22577219 PMID:25741868 PMID:26894521 PMID:32906214 PMID:9299505
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