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GENE - TERM ANNOTATION REPORT

RGD ID: 1359485
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ctnna1
Name: catenin alpha 1
Acc ID: DOID:0060864
Term: patterned macular dystrophy 2
Definition: A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12724643 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/26691986 "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)
Ctnna1 ISOCTNNA1 (Homo sapiens)7240710OMIM  
Ctnna1 ISOCTNNA1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Patterned macular dystrophy 2PMID:17576681 PMID:25741868 PMID:26691986 PMID:26845104 PMID:27153395 PMID:28041643 PMID:28492532 PMID:32051609 PMID:33137351 PMID:33435129 PMID:34326862 PMID:5442145 PMID:9536098
Ctnna1 ISSCtnna1 (Mus musculus)13592920MouseDOOMIM:608970 
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