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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking Impdh1 and retinitis pigmentosa in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Kennan A, etal., Hum Mol Genet. 2002 Mar 1;11(5):547-57.
  • The annotation has been inferred from sequence orthology with IMPDH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 13 additional annotations were made from Kennan A, etal., Hum Mol Genet. 2002 Mar 1;11(5):547-57.
  • 600 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 16 papers in RGD have been used to annotate Impdh1
  • Curation Notes: DNA:missense mutation:exon:p.R224P (human)


    • An association has been curated linking Impdh1 and retinitis pigmentosa in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Tam LC, etal., Hum Mol Genet. 2008 Jul 15;17(14):2084-100. Epub 2008 Apr 1.
  • The annotation has been inferred from sequence orthology with IMPDH1 (Homo sapiens) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Tam LC, etal., Hum Mol Genet. 2008 Jul 15;17(14):2084-100. Epub 2008 Apr 1.
  • 600 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 16 papers in RGD have been used to annotate Impdh1
  • Curation Notes: human gene in mouse model


    • An association has been curated linking Impdh1 and retinitis pigmentosa in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Bowne SJ, etal., Hum Mol Genet. 2002 Mar 1;11(5):559-68.
  • The annotation has been inferred from sequence orthology with IMPDH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Bowne SJ, etal., Hum Mol Genet. 2002 Mar 1;11(5):559-68.
  • 600 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 16 papers in RGD have been used to annotate Impdh1
  • Curation Notes: DNA:missense mutation: :p.D226N, p.V268I (human)


    • An association has been curated linking Impdh1 and retinitis pigmentosa 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 IMPDH1 (Homo sapiens) [(EXP) inferred from experiment]
  • 600 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 16 papers in RGD have been used to annotate Impdh1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:11875050 PMID:16384941


    • An association has been curated linking Impdh1 and retinitis pigmentosa 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 IMPDH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 600 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 16 papers in RGD have been used to annotate Impdh1
  • Curation Notes: ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
  • Original References(s): PMID:20045992 PMID:20718729 PMID:24244438 PMID:25741868 PMID:28492532 PMID:30718709


    • An association has been curated linking Impdh1 and retinitis pigmentosa 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 IMPDH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 600 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 16 papers in RGD have been used to annotate Impdh1
  • Curation Notes: ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
  • Original References(s): PMID:20045992 PMID:20718729 PMID:24244438 PMID:25741868 PMID:28166811 PMID:28492532 PMID:30718709


    • An association has been curated linking Impdh1 and retinitis pigmentosa 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 IMPDH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 600 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 16 papers in RGD have been used to annotate Impdh1
  • Curation Notes: ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
  • Original References(s): PMID:20045992 PMID:20718729 PMID:24244438 PMID:25698705 PMID:25741868 PMID:28492532 PMID:30718709


    • An association has been curated linking Impdh1 and retinitis pigmentosa 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 IMPDH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 600 RGD objects have been annotated to retinitis pigmentosa  (DOID:10584)
  • 16 papers in RGD have been used to annotate Impdh1
  • Curation Notes: ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa
  • Original References(s): PMID:14981049 PMID:16199547 PMID:20045992 PMID:20718729 PMID:24244438 PMID:25698705 PMID:25741868 PMID:28492532 PMID:30718709 PMID:32531858 PMID:33090715


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