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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Smad4 and juvenile polyposis-hereditary hemorrhagic telangiectasia 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome  (DOID:0111543)
  • 92 papers in RGD have been used to annotate Smad4


  • An association has been curated linking Smad4 and juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Gallione C, etal., Am J Med Genet A. 2010 Feb;152A(2):333-9. doi: 10.1002/ajmg.a.33206.
  • The annotation has been inferred from sequence orthology with SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Gallione C, etal., Am J Med Genet A. 2010 Feb;152A(2):333-9. doi: 10.1002/ajmg.a.33206.
  • 1 RGD objects have been annotated to juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome  (DOID:0111543)
  • 92 papers in RGD have been used to annotate Smad4
  • Curation Notes: DNA:mutations:exon:multiple


  • An association has been curated linking Smad4 and juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Gallione CJ, etal., Lancet. 2004 Mar 13;363(9412):852-9.
  • The annotation has been inferred from sequence orthology with SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Gallione CJ, etal., Lancet. 2004 Mar 13;363(9412):852-9.
  • 1 RGD objects have been annotated to juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome  (DOID:0111543)
  • 92 papers in RGD have been used to annotate Smad4
  • Curation Notes: DNA:frameshift mutations, missense mutations, nonsense mutation: :multiple


  • An association has been curated linking Smad4 and juvenile polyposis-hereditary hemorrhagic telangiectasia 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 SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome  (DOID:0111543)
  • 92 papers in RGD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: JP/HHT SYNDROME | ClinVar Annotator: match by term: JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA | ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
  • Original References(s): PMID:10398437 PMID:10441006 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10790223 PMID:10797267 PMID:11274206 PMID:11583957 PMID:11782434 PMID:11920286 PMID:11977156 PMID:12116240 PMID:12417513 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15288293 PMID:15754356 PMID:15799969 PMID:16152648 PMID:16199547 PMID:16436638 PMID:16613914 PMID:17132729 PMID:17362581 PMID:17576681 PMID:17873119 PMID:17994767 PMID:18178612 PMID:18355998 PMID:18823382 PMID:20101697 PMID:20301642 PMID:21153778 PMID:21465659 PMID:21515830 PMID:21835029 PMID:21898662 PMID:22158539 PMID:22243968 PMID:22316667 PMID:22331366 PMID:22585601 PMID:22683461 PMID:22703879 PMID:22748914 PMID:22810475 PMID:22843233 PMID:22875147 PMID:23239472 PMID:23399955 PMID:23559152 PMID:24033266 PMID:24398790 PMID:24424121 PMID:24465802 PMID:24465805 PMID:24715504 PMID:24728327 PMID:24763289 PMID:24841914 PMID:24983367 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25502805 PMID:25559809 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25742471 PMID:25931195 PMID:25980754 PMID:26253951 PMID:26467025 PMID:26572829 PMID:26580448 PMID:26614708 PMID:26619011 PMID:26633542 PMID:26636501 PMID:26681312 PMID:26956206 PMID:27023170 PMID:27079212 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28002797 PMID:28135145 PMID:28196074 PMID:28199989 PMID:28406602 PMID:28481359 PMID:28492532 PMID:28528518 PMID:28628100 PMID:28655553 PMID:28693246 PMID:28716708 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29069792 PMID:29212164 PMID:29684080 PMID:29743074 PMID:30426508 PMID:30719162 PMID:30809044 PMID:30842500 PMID:30968316 PMID:31068090 PMID:31159747 PMID:31474762 PMID:31515488 PMID:31595668 PMID:31654632 PMID:31684910 PMID:31758407 PMID:31837202 PMID:32066632 PMID:32068069 PMID:32300199 PMID:32573726 PMID:32719554 PMID:32944796 PMID:32973888 PMID:33097490 PMID:33326750 PMID:33428109 PMID:33745841 PMID:33824467 PMID:34130653 PMID:34326862 PMID:35943490 PMID:36194927 PMID:36243179 PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 PMID:9582123 PMID:9679244 PMID:9811934


  • An association has been curated linking Smad4 and juvenile polyposis-hereditary hemorrhagic telangiectasia 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 SMAD4 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome  (DOID:0111543)
  • 92 papers in RGD have been used to annotate Smad4
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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