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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking Hfe and cardiomyopathy in Chinchilla lanigera.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with HFE (Homo sapiens)
  • 1139 RGD objects have been annotated to cardiomyopathy  (DOID:0050700)
  • 2 papers in RGD have been used to annotate Hfe
  • Qualifier: treatment
  • Curation Notes: associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.C282Y (human)
  • Original References(s): PMID:23861158 REF_RGD_ID:10755538


    • An association has been curated linking Hfe and cardiomyopathy in Chinchilla lanigera.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with HFE (Homo sapiens)
  • 1139 RGD objects have been annotated to cardiomyopathy  (DOID:0050700)
  • 2 papers in RGD have been used to annotate Hfe
  • Qualifier: no_association
  • Curation Notes: associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.H63D (human)
  • Original References(s): PMID:23861158 REF_RGD_ID:10755538


    • An association has been curated linking Hfe and cardiomyopathy in Chinchilla lanigera.        

  • 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 HFE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1139 RGD objects have been annotated to cardiomyopathy  (DOID:0050700)
  • 2 papers in RGD have been used to annotate Hfe
  • Curation Notes: ClinVar Annotator: match by term: Cardiomyopathy
  • Original References(s): PMID:10381492 PMID:10401000 PMID:10431233 PMID:11040194 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12241803 PMID:12429850 PMID:12436244 PMID:12707220 PMID:12885340 PMID:12915468 PMID:14618419 PMID:14673107 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15546588 PMID:15858186 PMID:16132052 PMID:16186539 PMID:16879202 PMID:16880463 PMID:16979952 PMID:17042772 PMID:17210810 PMID:17308297 PMID:17389307 PMID:17450498 PMID:17600748 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19429178 PMID:19444013 PMID:19554541 PMID:19560233 PMID:20301613 PMID:20560808 PMID:21243428 PMID:21349849 PMID:21452290 PMID:22531912 PMID:23178241 PMID:23429074 PMID:23953397 PMID:24033266 PMID:24604426 PMID:24729993 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:26975792 PMID:27124787 PMID:27659401 PMID:27890643 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31061747 PMID:31220083 PMID:31436889 PMID:31980526 PMID:32153640 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:8943161 PMID:9024376 PMID:9106528 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897


    • An association has been curated linking Hfe and cardiomyopathy in Chinchilla lanigera.        

  • 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 HFE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1139 RGD objects have been annotated to cardiomyopathy  (DOID:0050700)
  • 2 papers in RGD have been used to annotate Hfe
  • Curation Notes: ClinVar Annotator: match by term: Cardiomyopathy
  • Original References(s): PMID:10381492 PMID:10401000 PMID:10431233 PMID:11040194 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12241803 PMID:12429850 PMID:12436244 PMID:12885340 PMID:12915468 PMID:14618419 PMID:14673107 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15858186 PMID:16132052 PMID:16879202 PMID:16880463 PMID:16979952 PMID:17389307 PMID:17450498 PMID:17600748 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19444013 PMID:19554541 PMID:19560233 PMID:20301613 PMID:21243428 PMID:21349849 PMID:21452290 PMID:22531912 PMID:23429074 PMID:23953397 PMID:24033266 PMID:24729993 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:26975792 PMID:27124787 PMID:27659401 PMID:27890643 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31061747 PMID:31220083 PMID:31436889 PMID:31980526 PMID:32153640 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:8943161 PMID:9024376 PMID:9106528 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897


    • An association has been curated linking Hfe and cardiomyopathy in Chinchilla lanigera.        

  • 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 HFE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1139 RGD objects have been annotated to cardiomyopathy  (DOID:0050700)
  • 2 papers in RGD have been used to annotate Hfe
  • Curation Notes: ClinVar Annotator: match by term: Cardiomyopathy
  • Original References(s): PMID:10381492 PMID:10401000 PMID:10431233 PMID:11040194 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12241803 PMID:12429850 PMID:12436244 PMID:12693884 PMID:12707220 PMID:12885340 PMID:12915468 PMID:14618419 PMID:14673107 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15546588 PMID:15858186 PMID:16132052 PMID:16186539 PMID:16879202 PMID:16880463 PMID:16979952 PMID:17042772 PMID:17210810 PMID:17308297 PMID:17389307 PMID:17450498 PMID:17600748 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19429178 PMID:19444013 PMID:19554541 PMID:19560233 PMID:20301613 PMID:20560808 PMID:21243428 PMID:21349849 PMID:21452290 PMID:22531912 PMID:23178241 PMID:23429074 PMID:23953397 PMID:24033266 PMID:24604426 PMID:24729993 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:26975792 PMID:27124787 PMID:27659401 PMID:27890643 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31061747 PMID:31220083 PMID:31335359 PMID:31436889 PMID:31980526 PMID:32153640 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:8943161 PMID:9024376 PMID:9106528 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897


    • An association has been curated linking Hfe and cardiomyopathy in Chinchilla lanigera.        

  • 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 HFE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1139 RGD objects have been annotated to cardiomyopathy  (DOID:0050700)
  • 2 papers in RGD have been used to annotate Hfe
  • Curation Notes: ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy
  • Original References(s): PMID:10381492 PMID:10401000 PMID:10431233 PMID:11040194 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12241803 PMID:12429850 PMID:12436244 PMID:12542741 PMID:12693884 PMID:12707220 PMID:12885340 PMID:12915468 PMID:14618419 PMID:14673107 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15546588 PMID:15858186 PMID:16132052 PMID:16186539 PMID:16879202 PMID:17042772 PMID:17210810 PMID:17308297 PMID:17389307 PMID:17450498 PMID:17600748 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19429178 PMID:19444013 PMID:19554541 PMID:19560233 PMID:20301613 PMID:20471131 PMID:20560808 PMID:21243428 PMID:21349849 PMID:22531912 PMID:23178241 PMID:23429074 PMID:23953397 PMID:24033266 PMID:24604426 PMID:24729993 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:26975792 PMID:27124787 PMID:27659401 PMID:27890643 PMID:28280078 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31061747 PMID:31220083 PMID:31335359 PMID:31436889 PMID:31980526 PMID:32153640 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:9024376 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9328324 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897


    • An association has been curated linking Hfe and cardiomyopathy in Chinchilla lanigera.        

  • 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 HFE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1139 RGD objects have been annotated to cardiomyopathy  (DOID:0050700)
  • 2 papers in RGD have been used to annotate Hfe
  • Curation Notes: ClinVar Annotator: match by term: Cardiomyopathy
  • Original References(s): PMID:10381492 PMID:10401000 PMID:10431233 PMID:11040194 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12241803 PMID:12429850 PMID:12436244 PMID:12542741 PMID:12693884 PMID:12707220 PMID:12885340 PMID:12915468 PMID:14618419 PMID:14673107 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15546588 PMID:15858186 PMID:16132052 PMID:16186539 PMID:16879202 PMID:17042772 PMID:17210810 PMID:17308297 PMID:17389307 PMID:17450498 PMID:17600748 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19429178 PMID:19444013 PMID:19554541 PMID:19560233 PMID:20301613 PMID:20471131 PMID:20560808 PMID:21243428 PMID:21349849 PMID:22531912 PMID:23178241 PMID:23429074 PMID:23953397 PMID:24033266 PMID:24604426 PMID:24729993 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:26975792 PMID:27124787 PMID:27659401 PMID:27890643 PMID:28280078 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31061747 PMID:31220083 PMID:31335359 PMID:31436889 PMID:31980526 PMID:32153640 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:9024376 PMID:9106528 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9328324 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897


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