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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Tgfbr1 and Loeys-Dietz syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TGFBR1 (Homo sapiens) [(EXP) inferred from experiment]
  • 42 RGD objects have been annotated to Loeys-Dietz syndrome  (DOID:0050466)
  • 60 papers in RGD have been used to annotate Tgfbr1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:20358619 PMID:22772368


    • An association has been curated linking Tgfbr1 and Loeys-Dietz syndrome 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 TGFBR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 42 RGD objects have been annotated to Loeys-Dietz syndrome  (DOID:0050466)
  • 60 papers in RGD have been used to annotate Tgfbr1
  • Curation Notes: ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
  • Original References(s): PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17652900 PMID:18455604 PMID:18781618 PMID:19542084 PMID:19561605 PMID:19839986 PMID:20332227 PMID:21267002 PMID:21358634 PMID:22113417 PMID:22414221 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:25110237 PMID:25116393 PMID:25326635 PMID:25326637 PMID:25521989 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:2647812 PMID:26848186 PMID:26877057 PMID:27125181 PMID:27153395 PMID:27611364 PMID:27879313 PMID:28152038 PMID:28492532 PMID:28655553 PMID:30739908 PMID:31624717


    • An association has been curated linking Tgfbr1 and Loeys-Dietz syndrome 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 TGFBR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 42 RGD objects have been annotated to Loeys-Dietz syndrome  (DOID:0050466)
  • 60 papers in RGD have been used to annotate Tgfbr1
  • Curation Notes: ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
  • Original References(s): PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17652900 PMID:18455604 PMID:18781618 PMID:19542084 PMID:19561605 PMID:19839986 PMID:20332227 PMID:21267002 PMID:21358634 PMID:22113417 PMID:22414221 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:25110237 PMID:25116393 PMID:25326635 PMID:25326637 PMID:25521989 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:2647812 PMID:26848186 PMID:26877057 PMID:27153395 PMID:27611364 PMID:27879313 PMID:28152038 PMID:28209770 PMID:28492532 PMID:28655553 PMID:31624717


    • An association has been curated linking Tgfbr1 and Loeys-Dietz syndrome 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 TGFBR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 42 RGD objects have been annotated to Loeys-Dietz syndrome  (DOID:0050466)
  • 60 papers in RGD have been used to annotate Tgfbr1
  • Curation Notes: ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
  • Original References(s): PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17652900 PMID:18455604 PMID:18781618 PMID:19542084 PMID:19561605 PMID:19839986 PMID:20332227 PMID:21267002 PMID:21358634 PMID:22113417 PMID:22414221 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:24931266 PMID:25110237 PMID:25116393 PMID:25326635 PMID:25521989 PMID:25589165 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:2647812 PMID:26848186 PMID:26877057 PMID:27153395 PMID:27611364 PMID:27879313 PMID:28152038 PMID:28209770 PMID:28492532 PMID:28655553 PMID:31624717


    • An association has been curated linking Tgfbr1 and Loeys-Dietz syndrome 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 Tgfbr1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 42 RGD objects have been annotated to Loeys-Dietz syndrome  (DOID:0050466)
  • 60 papers in RGD have been used to annotate Tgfbr1


    • An association has been curated linking Tgfbr1 and Loeys-Dietz syndrome 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 TGFBR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 42 RGD objects have been annotated to Loeys-Dietz syndrome  (DOID:0050466)
  • 60 papers in RGD have been used to annotate Tgfbr1
  • Curation Notes: ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A
  • Original References(s): PMID:15731757 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17652900 PMID:18455604 PMID:18781618 PMID:19542084 PMID:19561605 PMID:19839986 PMID:20332227 PMID:21267002 PMID:21358634 PMID:22113417 PMID:22414221 PMID:23064905 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:24931266 PMID:25110237 PMID:2511639 PMID:25116393 PMID:25326635 PMID:25521989 PMID:25589165 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:2647812 PMID:26848186 PMID:26877057 PMID:27125181 PMID:27146836 PMID:27153395 PMID:27611364 PMID:27879313 PMID:28152038 PMID:28209770 PMID:28492532 PMID:28550590 PMID:28655553 PMID:29192238 PMID:29706644 PMID:29907982 PMID:30219046 PMID:30701076 PMID:30739908 PMID:31624717 PMID:31915033 PMID:32339686 PMID:33436942 PMID:33824467 PMID:36237225


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