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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking Enpp1 and arterial calcification of infancy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Rutsch F, etal., Circ Cardiovasc Genet. 2008 Dec;1(2):133-40.
  • The annotation has been inferred from sequence orthology with ENPP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Rutsch F, etal., Circ Cardiovasc Genet. 2008 Dec;1(2):133-40.
  • 4 RGD objects have been annotated to arterial calcification of infancy  (DOID:0050644)
  • 42 papers in RGD have been used to annotate Enpp1
  • Curation Notes: DNA:mutations:multiple (human)


    • An association has been curated linking Enpp1 and arterial calcification of infancy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Cheng KS, etal., Am J Med Genet A. 2005 Jul 15;136(2):210-3.
  • The annotation has been inferred from sequence orthology with ENPP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Cheng KS, etal., Am J Med Genet A. 2005 Jul 15;136(2):210-3.
  • 4 RGD objects have been annotated to arterial calcification of infancy  (DOID:0050644)
  • 42 papers in RGD have been used to annotate Enpp1
  • Curation Notes: DNA:missense mutations:cds:p.G342V, p.Y371F (human)


    • An association has been curated linking Enpp1 and arterial calcification of infancy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Rutsch F, etal., Nat Genet 2003 Aug;34(4):379-81.
  • The annotation has been inferred from sequence orthology with ENPP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Rutsch F, etal., Nat Genet 2003 Aug;34(4):379-81.
  • 4 RGD objects have been annotated to arterial calcification of infancy  (DOID:0050644)
  • 42 papers in RGD have been used to annotate Enpp1
  • Curation Notes: DNA:missense mutations, nonsense mutations, frameshift mutation:cds:multiple (human)


    • An association has been curated linking Enpp1 and arterial calcification of infancy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Li Q, etal., Dis Model Mech. 2013 Sep;6(5):1227-35. doi: 10.1242/dmm.012765. Epub 2013 Jun 20.
  • The annotation has been inferred from sequence orthology with Enpp1 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Li Q, etal., Dis Model Mech. 2013 Sep;6(5):1227-35. doi: 10.1242/dmm.012765. Epub 2013 Jun 20.
  • 4 RGD objects have been annotated to arterial calcification of infancy  (DOID:0050644)
  • 42 papers in RGD have been used to annotate Enpp1
  • Curation Notes: DNA:missense mutation:cds:p.V246D (mouse)


    • An association has been curated linking Enpp1 and arterial calcification of infancy 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 ENPP1 (Homo sapiens) [(EXP) inferred from experiment]
  • 4 RGD objects have been annotated to arterial calcification of infancy  (DOID:0050644)
  • 42 papers in RGD have been used to annotate Enpp1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Enpp1 and arterial calcification of infancy 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 Enpp1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to arterial calcification of infancy  (DOID:0050644)
  • 42 papers in RGD have been used to annotate Enpp1
  • Curation Notes: OMIM:208000 | OMIM:614473


    • An association has been curated linking Enpp1 and arterial calcification of infancy 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 ENPP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to arterial calcification of infancy  (DOID:0050644)
  • 42 papers in RGD have been used to annotate Enpp1
  • Curation Notes: ClinVar Annotator: match by term: Idiopathic infantile arterial calcification
  • Original References(s): PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:16025115 PMID:16315058 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:18950909 PMID:19206175 PMID:20016754 PMID:20137773 PMID:20981035 PMID:22209248 PMID:22539483 PMID:24033266 PMID:25741868 PMID:27238374 PMID:27467858 PMID:28377967 PMID:28492532 PMID:28973083 PMID:29141319 PMID:29244957 PMID:29979387 PMID:33005041 PMID:34609116 PMID:35738466 PMID:8960499 PMID:9662402


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