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GENE - TERM ANNOTATION REPORT

10 Annotations Found.

An association has been curated linking Dsg2 and arrhythmogenic right ventricular cardiomyopathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with DSG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 120 RGD objects have been annotated to arrhythmogenic right ventricular cardiomyopathy  (DOID:0050431)
  • 21 papers in RGD have been used to annotate Dsg2
  • Curation Notes: ClinVar 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: Familial isolated arrhythmogenic right ventricular dysplasia
  • Original References(s): PMID:12586364 PMID:16025435 PMID:16199547 PMID:16505173 PMID:16773573 PMID:16774985 PMID:17105751 PMID:17372169 PMID:17576681 PMID:18382419 PMID:18632414 PMID:18678517 PMID:18813333 PMID:19039334 PMID:19151369 PMID:19279339 PMID:19358943 PMID:19569224 PMID:19863551 PMID:19955750 PMID:20031616 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20197793 PMID:2040044 PMID:20400443 PMID:20603720 PMID:20708101 PMID:20716751 PMID:20829228 PMID:20857253 PMID:20864495 PMID:21397041 PMID:21455723 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21859740 PMID:22000064 PMID:22214898 PMID:22458570 PMID:23071725 PMID:23137101 PMID:23178689 PMID:23299917 PMID:23381804 PMID:23396983 PMID:23514727 PMID:23671136 PMID:23810883 PMID:23810894 PMID:23812740 PMID:23861362 PMID:23871674 PMID:23871885 PMID:23889974 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24082139 PMID:24125834 PMID:24238504 PMID:24436435 PMID:24503780 PMID:24704780 PMID:24967631 PMID:25087486 PMID:25172079 PMID:25174650 PMID:25209314 PMID:25213555 PMID:25332820 PMID:25351510 PMID:25445213 PMID:25525159 PMID:25616645 PMID:25637381 PMID:2569966 PMID:25741868 PMID:25765472 PMID:25819062 PMID:25820315 PMID:26138720 PMID:26220970 PMID:26230511 PMID:26272908 PMID:26296472 PMID:26498160 PMID:26633542 PMID:26656175 PMID:26688388 PMID:26743238 PMID:26850880 PMID:26899768 PMID:27055156 PMID:27114410 PMID:271711 PMID:27194543 PMID:27532257 PMID:27930701 PMID:28254188 PMID:28254189 PMID:28255936 PMID:28283360 PMID:28323875 PMID:28341588 PMID:28416588 PMID:28454995 PMID:28471438 PMID:28492532 PMID:28567303 PMID:28578331 PMID:28588093 PMID:28600387 PMID:28818065 PMID:28878402 PMID:29016939 PMID:29038103 PMID:29062102 PMID:29178656 PMID:29192238 PMID:29247119 PMID:29343803 PMID:29396286 PMID:29456632 PMID:29517769 PMID:29544605 PMID:29566126 PMID:29606362 PMID:29750433 PMID:29759408 PMID:29773157 PMID:29790872 PMID:29802319 PMID:29899727 PMID:30129429 PMID:30165862 PMID:30177324 PMID:30391969 PMID:30454721 PMID:30471092 PMID:30533233 PMID:30615648 PMID:30731207 PMID:30790397 PMID:30830208 PMID:30847666 PMID:30885746 PMID:30919572 PMID:30975432 PMID:30985088 PMID:30993396 PMID:30996762 PMID:31019283 PMID:31183845 PMID:31333075 PMID:31386562 PMID:31402444 PMID:31542937 PMID:31568572 PMID:31638835 PMID:31645976 PMID:31655555 PMID:31702781 PMID:31737537 PMID:31845994 PMID:31983221 PMID:32041989 PMID:32102357 PMID:32114801 PMID:32268277 PMID:32516855 PMID:32659924 PMID:32665702 PMID:32682410 PMID:32686758 PMID:32746448 PMID:32826072 PMID:32877757 PMID:32880476 PMID:33029862 PMID:33087929 PMID:33232181 PMID:33238575 PMID:33460606 PMID:33552729 PMID:33652588 PMID:33673806 PMID:33762593 PMID:33821670 PMID:33919104 PMID:33949662 PMID:33968641 PMID:34012299 PMID:34036930 PMID:34317382 PMID:34426522 PMID:34428338 PMID:34500006 PMID:34998950 PMID:35026164 PMID:35087879 PMID:35300203 PMID:35653365 PMID:35819174 PMID:36138163 PMID:36621286 PMID:36837563 PMID:37328711 PMID:37418234 PMID:37477868 PMID:9536098


    • An association has been curated linking Dsg2 and arrhythmogenic right ventricular cardiomyopathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with DSG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 120 RGD objects have been annotated to arrhythmogenic right ventricular cardiomyopathy  (DOID:0050431)
  • 21 papers in RGD have been used to annotate Dsg2
  • Curation Notes: ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar 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: Familial isolated arrhythmogenic right ventricular dysplasia
  • Original References(s): PMID:16025435 PMID:16199547 PMID:16505173 PMID:16773573 PMID:16774985 PMID:17105751 PMID:17372169 PMID:18382419 PMID:18632414 PMID:18678517 PMID:18813333 PMID:19039334 PMID:19151369 PMID:19358943 PMID:19569224 PMID:19863551 PMID:19955750 PMID:20031616 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20197793 PMID:2040044 PMID:20400443 PMID:20603720 PMID:20708101 PMID:20716751 PMID:20829228 PMID:20857253 PMID:20864495 PMID:21397041 PMID:21455723 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21859740 PMID:22000064 PMID:22214898 PMID:23071725 PMID:23299917 PMID:23381804 PMID:23514727 PMID:23671136 PMID:23810883 PMID:23810894 PMID:23812740 PMID:23861362 PMID:23871674 PMID:23871885 PMID:23889974 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24082139 PMID:24238504 PMID:24436435 PMID:24503780 PMID:24704780 PMID:25087486 PMID:25172079 PMID:25213555 PMID:25332820 PMID:25445213 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25765472 PMID:25820315 PMID:26138720 PMID:26220970 PMID:26230511 PMID:26899768 PMID:27194543 PMID:27532257 PMID:27930701 PMID:28255936 PMID:28283360 PMID:28341588 PMID:28492532 PMID:28578331 PMID:28818065 PMID:29038103 PMID:29062102 PMID:29178656 PMID:29544605 PMID:30454721 PMID:30790397 PMID:30885746 PMID:31019283 PMID:31333075 PMID:31386562 PMID:31402444 PMID:31568572


    • An association has been curated linking Dsg2 and arrhythmogenic right ventricular cardiomyopathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Vite A, etal., PLoS One. 2013 Sep 23;8(9):e75082. doi: 10.1371/journal.pone.0075082. eCollection 2013.
  • The annotation has been inferred from sequence orthology with DSG2 (Homo sapiens) [(IEP) inferred from expression pattern]
  • 5 additional annotations were made from Vite A, etal., PLoS One. 2013 Sep 23;8(9):e75082. doi: 10.1371/journal.pone.0075082. eCollection 2013.
  • 120 RGD objects have been annotated to arrhythmogenic right ventricular cardiomyopathy  (DOID:0050431)
  • 21 papers in RGD have been used to annotate Dsg2
  • Curation Notes: protein:decreased expression:septum, heart left ventricle, heart right ventricle (human)


    • An association has been curated linking Dsg2 and arrhythmogenic right ventricular cardiomyopathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Kant S, etal., Circ Cardiovasc Genet. 2015 Aug;8(4):553-63. doi: 10.1161/CIRCGENETICS.114.000974. Epub 2015 Jun 17.
  • The annotation has been inferred from sequence orthology with Dsg2 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Kant S, etal., Circ Cardiovasc Genet. 2015 Aug;8(4):553-63. doi: 10.1161/CIRCGENETICS.114.000974. Epub 2015 Jun 17.
  • 120 RGD objects have been annotated to arrhythmogenic right ventricular cardiomyopathy  (DOID:0050431)
  • 21 papers in RGD have been used to annotate Dsg2


    • An association has been curated linking Dsg2 and arrhythmogenic right ventricular cardiomyopathy in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Dsg2 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 120 RGD objects have been annotated to arrhythmogenic right ventricular cardiomyopathy  (DOID:0050431)
  • 21 papers in RGD have been used to annotate Dsg2


    • An association has been curated linking Dsg2 and arrhythmogenic right ventricular cardiomyopathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Chatterjee D, etal., Eur Heart J. 2018 Nov 21;39(44):3932-3944. doi: 10.1093/eurheartj/ehy567.
  • The annotation has been inferred from sequence orthology with DSG2 (Homo sapiens) [(IDA) inferred from direct assay]
  • 3 additional annotations were made from Chatterjee D, etal., Eur Heart J. 2018 Nov 21;39(44):3932-3944. doi: 10.1093/eurheartj/ehy567.
  • 120 RGD objects have been annotated to arrhythmogenic right ventricular cardiomyopathy  (DOID:0050431)
  • 21 papers in RGD have been used to annotate Dsg2
  • Qualifier: severity


    • An association has been curated linking Dsg2 and arrhythmogenic right ventricular cardiomyopathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Chen L, etal., Int J Cardiol. 2019 Jan 1;274:263-270. doi: 10.1016/j.ijcard.2018.06.105. Epub 2018 Jun 28.
  • The annotation has been inferred from sequence orthology with DSG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Chen L, etal., Int J Cardiol. 2019 Jan 1;274:263-270. doi: 10.1016/j.ijcard.2018.06.105. Epub 2018 Jun 28.
  • 120 RGD objects have been annotated to arrhythmogenic right ventricular cardiomyopathy  (DOID:0050431)
  • 21 papers in RGD have been used to annotate Dsg2
  • Qualifier: susceptibility
  • Curation Notes: DNA:mutation:cds: p.Phe531Cys(human)


    • An association has been curated linking Dsg2 and arrhythmogenic right ventricular cardiomyopathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Calore M, etal., Cardiovasc Res. 2019 Mar 15;115(4):739-751. doi: 10.1093/cvr/cvy253.
  • The annotation has been inferred from sequence orthology with DSG2 (Homo sapiens) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Calore M, etal., Cardiovasc Res. 2019 Mar 15;115(4):739-751. doi: 10.1093/cvr/cvy253.
  • 120 RGD objects have been annotated to arrhythmogenic right ventricular cardiomyopathy  (DOID:0050431)
  • 21 papers in RGD have been used to annotate Dsg2


    • An association has been curated linking Dsg2 and arrhythmogenic right ventricular cardiomyopathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Schinner C, etal., JCI Insight. 2020 May 7;5(9):e130141. doi: 10.1172/jci.insight.130141.
  • The annotation has been inferred from sequence orthology with Dsg2 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Schinner C, etal., JCI Insight. 2020 May 7;5(9):e130141. doi: 10.1172/jci.insight.130141.
  • 120 RGD objects have been annotated to arrhythmogenic right ventricular cardiomyopathy  (DOID:0050431)
  • 21 papers in RGD have been used to annotate Dsg2
  • Qualifier: ameliorates


    • An association has been curated linking Dsg2 and arrhythmogenic right ventricular cardiomyopathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with DSG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 120 RGD objects have been annotated to arrhythmogenic right ventricular cardiomyopathy  (DOID:0050431)
  • 21 papers in RGD have been used to annotate Dsg2
  • Curation Notes: ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC
  • Original References(s): PMID:12586364 PMID:16025435 PMID:16199547 PMID:16505173 PMID:16773573 PMID:16774985 PMID:17105751 PMID:17372169 PMID:18382419 PMID:18632414 PMID:18678517 PMID:18813333 PMID:19039334 PMID:19151369 PMID:19358943 PMID:19569224 PMID:19863551 PMID:19955750 PMID:20031616 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20197793 PMID:2040044 PMID:20400443 PMID:20603720 PMID:20708101 PMID:20716751 PMID:20829228 PMID:20857253 PMID:20864495 PMID:21397041 PMID:21455723 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21723241 PMID:21859740 PMID:22000064 PMID:22214898 PMID:23071725 PMID:23137101 PMID:23299917 PMID:23381804 PMID:23514727 PMID:23671136 PMID:23810883 PMID:23810894 PMID:23812740 PMID:23861362 PMID:23871674 PMID:23871885 PMID:23889974 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24082139 PMID:24238504 PMID:24436435 PMID:24503780 PMID:24704780 PMID:24967631 PMID:25087486 PMID:25172079 PMID:25213555 PMID:25332820 PMID:25351510 PMID:25445213 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25765472 PMID:25820315 PMID:26138720 PMID:26220970 PMID:26230511 PMID:26688388 PMID:26899768 PMID:27194543 PMID:27532257 PMID:27930701 PMID:28255936 PMID:28283360 PMID:28323875 PMID:28341588 PMID:28471438 PMID:28492532 PMID:28578331 PMID:28818065 PMID:28878402 PMID:29038103 PMID:29062102 PMID:29178656 PMID:29343803 PMID:29396286 PMID:29544605 PMID:29606362 PMID:29759408 PMID:30177324 PMID:30454721 PMID:30790397 PMID:30847666 PMID:30885746 PMID:31019283 PMID:31333075 PMID:31386562 PMID:31402444 PMID:31542937 PMID:31568572 PMID:31645976 PMID:31845994 PMID:31983221 PMID:32746448 PMID:32877757 PMID:32880476 PMID:33232181 PMID:33652588 PMID:33673806 PMID:33919104 PMID:34012299 PMID:34036930 PMID:34317382 PMID:35087879 PMID:35300203


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