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GENE - TERM ANNOTATION REPORT

RGD ID: 1332428
Species: Mus musculus
RGD Object: Gene
Symbol: Car4
Name: carbonic anhydrase 4
Acc ID: DOID:0110404
Term: retinitis pigmentosa 17
Definition: A retinitis pigmentosa that has_material_basis_in mutation in the CA4 gene on chromosome 17q23.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15090652 "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)
Car4 ISOCA4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinitis pigmentosa 17PMID:15090652 PMID:15295099 PMID:15563508 PMID:17652713 PMID:19211803 PMID:20238024 PMID:20450258 PMID:20626030 PMID:25741868 PMID:28492532 PMID:33022222 PMID:7581389 PMID:9385361
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