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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:0110390
Term: retinitis pigmentosa 1
Definition: A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10391211 "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: Retinitis pigmentosa 1PMID:17325179 PMID:20029649 PMID:23419329 PMID:23769331 PMID:23982839 PMID:25444351 PMID:25741868 PMID:28492532 PMID:32307445
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