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GENE - TERM ANNOTATION REPORT

RGD ID: 1309445
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Abca4
Name: ATP binding cassette subfamily A member 4
Acc ID: DOID:0110188
Term: Leber congenital amaurosis 14
Definition: A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17011878 "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)
Abca4 ISOABCA4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosis 14PMID:10958761 PMID:16546111 PMID:24938718 PMID:25312043 PMID:25544989 PMID:25741868 PMID:26780318 PMID:28041643 PMID:28492532 PMID:28947085 PMID:30718709 PMID:33546218 PMID:36909829 PMID:9973280
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