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GENE - TERM ANNOTATION REPORT

RGD ID: 620555
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mt-nd1
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
Acc ID: DOID:14791
Term: Leber congenital amaurosis
Definition: A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis "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-nd1 ISOMT-ND1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber's diseasePMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:10976107 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11854175 PMID:11925565 PMID:1436530 PMID:14998933 PMID:15342361 PMID:1539598 PMID:1550128 PMID:1550131 PMID:15720387 PMID:15883259 PMID:16738010 PMID:1674640 PMID:1732158 PMID:1734726 PMID:17452590 PMID:17620555 PMID:1900003 PMID:1928099 PMID:1959619 PMID:19667215 PMID:19875463 PMID:20301353 PMID:2137962 PMID:22079202 PMID:24088041 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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