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GENE - TERM ANNOTATION REPORT

RGD ID: 736401
Species: Mus musculus
RGD Object: Gene
Symbol: mt-Nd5
Name: NADH dehydrogenase 5, mitochondrial
Acc ID: DOID:705
Term: Leber hereditary optic neuropathy
Definition: A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
Definition Source(s): MESH:D029242
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)1581060RGD  
mt-Nd5 ISOMT-ND5 (Homo sapiens)5491172RGDDNA:mutation:: m.12338 T>C 
mt-Nd5 ISOMT-ND5 (Homo sapiens)5491183RGDDNA:mutation:exon:p.Y159H(human)  
mt-Nd5 ISOMT-ND5 (Homo sapiens)5491202RGDDNA:mutation:exon:13042G>A (A236T) (human)  
mt-Nd5 ISOMT-ND5 (Homo sapiens)5507826RGDDNA:mutation: :m.13708G>A (human) 
mt-Nd5 ISOMT-ND5 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:31669237
mt-Nd5 ISOMT-ND5 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophyPMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:11938446 PMID:12509858 PMID:12736867 PMID:1417830 PMID:1436530 PMID:14998933 PMID:1539598 PMID:1550128 PMID:15767514 PMID:16240359 PMID:16816025 PMID:17317336 PMID:1732158 PMID:17400793 PMID:17452590 PMID:17535832 PMID:1764087 PMID:18332249 PMID:18977334 PMID:1900003 PMID:19667215 PMID:19875463 PMID:20018511 PMID:20301353 PMID:21131053 PMID:2137962 PMID:22022272 PMID:22249460 PMID:22577219 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27164671 PMID:27450679 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 PMID:8042671 PMID:8095070 PMID:8213825 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875
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