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GENE - TERM ANNOTATION REPORT

RGD ID: 1609862
Species: Mus musculus
RGD Object: Gene
Symbol: mt-Nd1
Name: NADH dehydrogenase 1, 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-Nd1 ISOMT-ND1 (Homo sapiens)5508187RGDDNA:transition:CDS:c.3460G>A, p.A52T (human) 
mt-Nd1 ISOMT-ND1 (Homo sapiens)5508685RGDDNA:snp:cds:m.3635G>A (human) 
mt-Nd1 ISOMT-ND1 (Homo sapiens)5508689RGDDNA:snp:cds:m.3394T>C (human) 
mt-Nd1 ISOMT-ND1 (Homo sapiens)5508712RGDDNA:snps:cds:m.4136A>G, m.4160T>C (human) 
mt-Nd1 ISOMT-ND1 (Homo sapiens)8657116RGDDNA:missense mutation:cds:m.3866T>C (p.I187T) (human) 
mt-Nd1 ISOMT-ND1 (Homo sapiens)8657118RGDDNA:missense mutation:cds:p.L289M (m.4171C>A) (human) 
mt-Nd1 ISOMT-ND1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:15342361 PMID:15505787 PMID:24569607 PMID:27449621 PMID:29991444
mt-Nd1 ISOMT-ND1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Leber's optic atrophyPMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:10976107 PMID:11076946 PMID:11371515 PMID:11479733 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11854175 PMID:11925565 PMID:12112111 PMID:1417830 PMID:1436530 PMID:1442494 PMID:14998933 PMID:15342361 PMID:1539598 PMID:15466014 PMID:1550128 PMID:1550131 PMID:15505787 PMID:15720387 PMID:15883259 PMID:15972314 PMID:16738010 PMID:1674640 PMID:16849371 PMID:16969869 PMID:1732158 PMID:1734726 PMID:17452590 PMID:17562939 PMID:17620555 PMID:18216301 PMID:1900003 PMID:1928099 PMID:19497304 PMID:19555656 PMID:1959619 PMID:19667215 PMID:19875463 PMID:20301353 PMID:21364701 PMID:2137962 PMID:22079202 PMID:22879922 PMID:24088041 PMID:24830958 PMID:24884847 PMID:25194554 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:30143805 PMID:32313153 PMID:32906214 PMID:35383288 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:8496715 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875
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