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GENE - TERM ANNOTATION REPORT

RGD ID: 1344166
Species: Homo sapiens
RGD Object: Gene
Symbol: OPA1
Name: OPA1 mitochondrial dynamin like GTPase
Acc ID: DOID:8501
Term: fundus dystrophy
Definition: A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
Definition Source(s): MESH:D058499
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)
OPA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:25012220 PMID:25741868
OPA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:11440988 PMID:12036970 PMID:16513463 PMID:17251483 PMID:20157015 PMID:20952381 PMID:25012220 PMID:25205859 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32025183 PMID:32855858 PMID:33884488 PMID:34242285
OPA1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophy 
OPA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:28492532
OPA1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Retinal dystrophyPMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:18222991 PMID:20157015 PMID:20417570 PMID:20659957 PMID:20952381 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23401657 PMID:24907432 PMID:25012220 PMID:25641387 PMID:25741868 PMID:26385429 PMID:26467025 PMID:28492532 PMID:28812649 PMID:32025183 PMID:33546218 PMID:33884488 PMID:34242285 PMID:9490303 PMID:9917792
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