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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Tbx1 and velocardiofacial syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with TBX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 51 RGD objects have been annotated to velocardiofacial syndrome  (DOID:12583)
  • 30 papers in RGD have been used to annotate Tbx1


    • An association has been curated linking Tbx1 and velocardiofacial syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Liao J, etal., Hum Mol Genet. 2004 Aug 1;13(15):1577-85. doi: 10.1093/hmg/ddh176. Epub 2004 Jun 9.
  • The annotation has been inferred from sequence orthology with TBX1 (Homo sapiens) [(IGI) inferred from genetic interaction]
  • 2 additional annotations were made from Liao J, etal., Hum Mol Genet. 2004 Aug 1;13(15):1577-85. doi: 10.1093/hmg/ddh176. Epub 2004 Jun 9.
  • 51 RGD objects have been annotated to velocardiofacial syndrome  (DOID:12583)
  • 30 papers in RGD have been used to annotate Tbx1


    • An association has been curated linking Tbx1 and velocardiofacial 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 TBX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 51 RGD objects have been annotated to velocardiofacial syndrome  (DOID:12583)
  • 30 papers in RGD have been used to annotate Tbx1
  • Curation Notes: ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Shprintzen VCF syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome
  • Original References(s): PMID:11748311 PMID:15355425 PMID:16684884 PMID:17273972 PMID:17576681 PMID:18375573 PMID:25741868 PMID:25860641 PMID:28492532 PMID:29250159 PMID:29500247 PMID:33995479 PMID:9536098


    • An association has been curated linking Tbx1 and velocardiofacial 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 Tbx1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 51 RGD objects have been annotated to velocardiofacial syndrome  (DOID:12583)
  • 30 papers in RGD have been used to annotate Tbx1
  • Curation Notes: OMIM:192430


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