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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Tgfbr2 and Loeys-Dietz syndrome 1 in Ictidomys tridecemlineatus.        

  • 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 TGFBR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Loeys-Dietz syndrome 1  (DOID:0070235)
  • 0 papers in RGD have been used to annotate Tgfbr2
  • Curation Notes: ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1
  • Original References(s): PMID:16251899 PMID:16928994 PMID:18781618 PMID:18852674 PMID:19006214 PMID:21484991 PMID:22095581 PMID:22113417 PMID:22259224 PMID:23884466 PMID:24792536 PMID:25637381 PMID:25741868 PMID:28492532 PMID:30739908 PMID:32152251


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