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GENE - TERM ANNOTATION REPORT

RGD ID: 12146852
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: TTN
Name: titin
Acc ID: DOID:0050431
Term: arrhythmogenic right ventricular cardiomyopathy
Definition: An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia "DO" "DO", http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy "DO" "DO", http://my.clevelandclinic.org/services/heart/disorders/arvd "DO" "DO", http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/31637441/ "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)
TTN ISOTTN (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Right ventricular cardiomyopathyPMID:17576681 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25016126 PMID:25448463 PMID:25741868 PMID:26467025 PMID:26498160 PMID:26516846 PMID:27662471 PMID:28492532 PMID:28697927 PMID:28750076 PMID:28771489 PMID:28857138 PMID:30564623 PMID:9536098
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