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GENE - TERM ANNOTATION REPORT

CRRD ID: 620561
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Mt-nd6
Name: mitochondrially encoded NADH dehydrogenase 6
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13487598554872ClinVarClinVar Annotator: match by term: Leber's optic atrophy

PMID:10072046, PMID:10631164, PMID:12205655, PMID:12736867, PMID:12827453, PMID:1463007, PMID:15954041, PMID:1634041, PMID:18674747, PMID:5511487, PMID:9012411, PMID:9849804
 ISORGD:13487598554872ClinVarClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber

 
 ISORGD:13487598554872ClinVarClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber

PMID:10894222, PMID:14735585, PMID:16380132, PMID:7654063, PMID:8016139
 ISORGD:13487598554872ClinVarClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber

PMID:11133798
 ISORGD:13487598554872ClinVarClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber

PMID:12112086
 ISORGD:13487598554872ClinVarClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber

PMID:8644732
 ISORGD:13487598657119CRRDDNA:SNP, haplotypes: :m.14484T>C (human)

 
 ISORGD:13487598657123CRRDDNA:missense mutation:cds:m.14502T>C (p.I58V) (human)

 
 ISORGD:13487598657125CRRDDNA:missense mutations, haplotypes:cds:multiple

 
 ISORGD:134875911554173CTDCTD Direct Evidence: marker/mechanism

PMID:15342361, PMID:24569607
 ISORGD:7353868657127CRRDDNA:mutation: :m.13997G>A (p.P25L) (mouse)

 
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.