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GENE - TERM ANNOTATION REPORT

RGD ID: 732790
Species: Homo sapiens
RGD Object: Gene
Symbol: LMNA
Name: lamin A/C
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)
LMNA IAGP 11056513RGDDNA:duplication:cds:c.418_438dup (human) 
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathyPMID:24033266 PMID:25741868 PMID:27884249 PMID:28492532
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasiaPMID:22224630 PMID:22266370 PMID:22464770 PMID:23183350 PMID:23853504 PMID:24033266 PMID:24503780 PMID:24846508 PMID:25741868 PMID:27532257 PMID:27585670 PMID:27723096 PMID:28492532 PMID:29149195 PMID:29237675 PMID:30165862 PMID:30528549 PMID:30847666 PMID:30871747 PMID:31303467 PMID:31829210 PMID:34808346
LMNA IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVCPMID:24033266 PMID:25741868 PMID:28492532 PMID:30402260 PMID:30765282 PMID:30847666 PMID:31447099 PMID:34363016 PMID:35526016
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