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GENE - TERM ANNOTATION REPORT

RGD ID: 1310996
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nmnat1
Name: nicotinamide nucleotide adenylyltransferase 1
Acc ID: DOID:0110005
Term: Leber congenital amaurosis 9
Definition: A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/22842230 "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)
Nmnat1 ISONMNAT1 (Homo sapiens)7240710OMIM  
Nmnat1 ISONMNAT1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Nmnat1 ISONMNAT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9PMID:12734549 PMID:16199547 PMID:17576681 PMID:20301475 PMID:22842227 PMID:22842229 PMID:22842230 PMID:22842231 PMID:23040504 PMID:24033266 PMID:24625443 PMID:24791140 PMID:24830548 PMID:24940029 PMID:25412400 PMID:25741868 PMID:25988908 PMID:26018082 PMID:26047050 PMID:26103963 PMID:26316326 PMID:26464178 PMID:27032803 PMID:27422788 PMID:28041643 PMID:28369829 PMID:28453600 PMID:28492532 PMID:29074561 PMID:29178642 PMID:29184169 PMID:30004997 PMID:31054281 PMID:31630094 PMID:31877759 PMID:32037395 PMID:32150116 PMID:32165824 PMID:32533184 PMID:32581362 PMID:32865313 PMID:34837036 PMID:36140798 PMID:3691693 PMID:9536098
Nmnat1 ISSNmnat1 (Mus musculus)13592920MouseDOOMIM:608553 
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