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GENE - TERM ANNOTATION REPORT

RGD ID: 1347887
Species: Homo sapiens
RGD Object: Gene
Symbol: DES
Name: desmin
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)
DES IAGP 13525009RGDDNA:mutation:cds:c.1203G>C (p.E401D)(human) 
DES ISODes (Mus musculus)265253172RGDprotein:decreased expression:cardiac ventricle (mouse) 
DES IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathyPMID:25741868
DES IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cardiomyopathy, ARVCPMID:23575897 PMID:25741868 PMID:28492532
DES IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathyPMID:25741868 PMID:27532257 PMID:28492532 PMID:31718026
DES IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathyPMID:10717012 PMID:10905661 PMID:14991347 PMID:15050448 PMID:21262226 PMID:22153487 PMID:23143191 PMID:23425003 PMID:24033266 PMID:25741868 PMID:27854218 PMID:28492532 PMID:33023321 PMID:34712946 PMID:36792195 PMID:38314304
DES IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathyPMID:24033266 PMID:25179549 PMID:25741868 PMID:28492532
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