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GENE - TERM ANNOTATION REPORT

RGD ID: 620412
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Jup
Name: junction plakoglobin
Acc ID: DOID:0110083
Term: arrhythmogenic right ventricular dysplasia 12
Definition: An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/17924338/ "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)
Jup ISOJUP (Homo sapiens)7240710OMIM  
Jup ISOJUP (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Jup ISOJUP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12PMID:10902626 PMID:16199547 PMID:16467215 PMID:17576681 PMID:18672408 PMID:19863551 PMID:20031617 PMID:20130592 PMID:20152563 PMID:20525856 PMID:20857253 PMID:20864495 PMID:21606396 PMID:21668431 PMID:21859740 PMID:23299917 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24125834 PMID:24238504 PMID:24503780 PMID:25351510 PMID:25363760 PMID:25363768 PMID:25445213 PMID:25616645 PMID:25741868 PMID:25765472 PMID:25820315 PMID:26073755 PMID:26220970 PMID:26230511 PMID:26272908 PMID:27005929 PMID:27037756 PMID:27532257 PMID:27662471 PMID:27930701 PMID:28341588 PMID:28471438 PMID:28492532 PMID:28831623 PMID:28855170 PMID:29247119 PMID:29334134 PMID:29350269 PMID:29517769 PMID:29606362 PMID:29892012 PMID:30206291 PMID:30615648 PMID:30775854 PMID:30847666 PMID:31275992 PMID:31402444 PMID:31983221 PMID:32212272 PMID:32233023 PMID:32268277 PMID:32746448 PMID:32880476 PMID:33500567 PMID:33919104 PMID:34011629 PMID:34026867 PMID:34076677 PMID:34500006 PMID:35091851 PMID:35581137 PMID:9536098
Jup ISSJup (Mus musculus)13592920MouseDOOMIM:611528 
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