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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Notch1 and aortic valve disease 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Garg V, etal., Nature. 2005 Sep 8;437(7056):270-4. Epub 2005 Jul 17.
  • The annotation has been inferred from sequence orthology with NOTCH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Garg V, etal., Nature. 2005 Sep 8;437(7056):270-4. Epub 2005 Jul 17.
  • 7 RGD objects have been annotated to aortic valve disease 1  (DOID:0080333)
  • 67 papers in RGD have been used to annotate Notch1
  • Curation Notes: DNA:nonsense mutation, deletion:cds:p.R1108X, p.H1505Xfs (human)


    • An association has been curated linking Notch1 and aortic valve disease 1 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 NOTCH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to aortic valve disease 1  (DOID:0080333)
  • 67 papers in RGD have been used to annotate Notch1


    • An association has been curated linking Notch1 and aortic valve disease 1 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 NOTCH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to aortic valve disease 1  (DOID:0080333)
  • 67 papers in RGD have been used to annotate Notch1
  • Curation Notes: ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition
  • Original References(s): PMID:15472075 PMID:16025100 PMID:16614245 PMID:16729972 PMID:17576681 PMID:17662764 PMID:18593716 PMID:19245433 PMID:19635999 PMID:20007775 PMID:20951801 PMID:20981092 PMID:21457232 PMID:21670202 PMID:22077063 PMID:22210878 PMID:22858860 PMID:23086750 PMID:23578328 PMID:23734977 PMID:23798201 PMID:24033266 PMID:24113472 PMID:24418111 PMID:24728327 PMID:24943832 PMID:25104330 PMID:25132448 PMID:25260786 PMID:25326637 PMID:25500235 PMID:25587027 PMID:25741868 PMID:25907466 PMID:25931334 PMID:25963545 PMID:26188975 PMID:26580448 PMID:26699486 PMID:26708639 PMID:26820064 PMID:26837699 PMID:26893459 PMID:27283355 PMID:27760138 PMID:27854218 PMID:27989580 PMID:27993330 PMID:28074886 PMID:28387797 PMID:28492532 PMID:28963436 PMID:28991257 PMID:29641532 PMID:29907982 PMID:29924900 PMID:30059548 PMID:30255099 PMID:30511478 PMID:30582441 PMID:30609409 PMID:30675029 PMID:31624253 PMID:31633846 PMID:31654484 PMID:31866570 PMID:32748548 PMID:33064175 PMID:33110418 PMID:33208564 PMID:33726816 PMID:33914609 PMID:33994118 PMID:34328347 PMID:34498425 PMID:35101336 PMID:35288444 PMID:36140728 PMID:36973604 PMID:9536098


    • An association has been curated linking Notch1 and aortic valve disease 1 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 NOTCH1 (Homo sapiens) [(EXP) inferred from experiment]
  • 7 RGD objects have been annotated to aortic valve disease 1  (DOID:0080333)
  • 67 papers in RGD have been used to annotate Notch1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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