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GENE - TERM ANNOTATION REPORT

RGD ID: 12092321
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: MT-ND5
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
Acc ID: DOID:3652
Term: Leigh disease
Definition: A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Leigh%27s_disease "DO" "DO", http://ghr.nlm.nih.gov/condition/leigh-syndrome "DO" "DO", https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ "DO" "DO", https://rarediseases.org/rare-diseases/leigh-syndrome/ "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)8554872ClinVarClinVar Annotator: match by term: Leigh syndromePMID:10589546 PMID:11102991 PMID:11198278 PMID:11938446 PMID:12624137 PMID:1417830 PMID:14520659 PMID:14730434 PMID:15521990 PMID:16306525 PMID:17003408 PMID:17264866 PMID:17317336 PMID:1732158 PMID:17400793 PMID:17535832 PMID:1764087 PMID:17940288 PMID:18246027 PMID:18332249 PMID:18524835 PMID:18977334 PMID:1900003 PMID:20301353 PMID:21131053 PMID:22022272 PMID:22780954 PMID:23463613 PMID:25701779 PMID:25741868 PMID:27422531 PMID:29987491 PMID:30143805 PMID:32906214 PMID:9299505
MT-ND5 ISOMT-ND5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leigh syndromePMID:10589546 PMID:11102991 PMID:11198278 PMID:11938446 PMID:12624137 PMID:1417830 PMID:14520659 PMID:14730434 PMID:15521990 PMID:16306525 PMID:17003408 PMID:17264866 PMID:17317336 PMID:1732158 PMID:17400793 PMID:17535832 PMID:1764087 PMID:17940288 PMID:18246027 PMID:18332249 PMID:18524835 PMID:18977334 PMID:1900003 PMID:20301353 PMID:21131053 PMID:22780954 PMID:23463613 PMID:25701779 PMID:25741868 PMID:27422531 PMID:29987491 PMID:30143805 PMID:9299505
MT-ND5 ISOMT-ND5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathyPMID:10589546 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11102991 PMID:11198278 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:11938446 PMID:12624137 PMID:1417830 PMID:1436530 PMID:14520659 PMID:14730434 PMID:14998933 PMID:1539598 PMID:1550128 PMID:15521990 PMID:16306525 PMID:17003408 PMID:17264866 PMID:17317336 PMID:1732158 PMID:17400793 PMID:17452590 PMID:17535832 PMID:1764087 PMID:17940288 PMID:18246027 PMID:18332249 PMID:18524835 PMID:18977334 PMID:1900003 PMID:19667215 PMID:19875463 PMID:20301353 PMID:21131053 PMID:2137962 PMID:22022272 PMID:22780954 PMID:23463613 PMID:24088041 PMID:25701779 PMID:25741868 PMID:26633545 PMID:27422531 PMID:27450679 PMID:29602698 PMID:29987491 PMID:30143805 PMID:32313153 PMID:32906214 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9299505 PMID:9329425 PMID:9556461 PMID:9883875
MT-ND5 ISOMT-ND5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathyPMID:10589546 PMID:11102991 PMID:11198278 PMID:11938446 PMID:12624137 PMID:1417830 PMID:14520659 PMID:14730434 PMID:15521990 PMID:16306525 PMID:17003408 PMID:17264866 PMID:17317336 PMID:1732158 PMID:17400793 PMID:17535832 PMID:1764087 PMID:17940288 PMID:18246027 PMID:18332249 PMID:18524835 PMID:18977334 PMID:1900003 PMID:20301353 PMID:21131053 PMID:22022272 PMID:22780954 PMID:23463613 PMID:25701779 PMID:25741868 PMID:27422531 PMID:29987491 PMID:30143805 PMID:9299505
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