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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Nphp1 and nephronophthisis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Hoefele J, etal., J Am Soc Nephrol. 2007 Oct;18(10):2789-95. Epub 2007 Sep 12.
  • The annotation has been inferred from sequence orthology with NPHP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from Hoefele J, etal., J Am Soc Nephrol. 2007 Oct;18(10):2789-95. Epub 2007 Sep 12.
  • 117 RGD objects have been annotated to nephronophthisis  (DOID:12712)
  • 13 papers in RGD have been used to annotate Nphp1
  • Curation Notes: DNA:deletions, nonsense mutations:cds:multiple


    • An association has been curated linking Nphp1 and nephronophthisis 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 NPHP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 117 RGD objects have been annotated to nephronophthisis  (DOID:12712)
  • 13 papers in RGD have been used to annotate Nphp1
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8
  • Original References(s): PMID:10620543 PMID:10839884 PMID:11168925 PMID:15138899 PMID:16199547 PMID:16762963 PMID:17576681 PMID:17855640 PMID:18076122 PMID:19118152 PMID:23559409 PMID:23661369 PMID:23757202 PMID:24033266 PMID:24154662 PMID:24746959 PMID:25268133 PMID:25525159 PMID:25741868 PMID:26477546 PMID:26499951 PMID:26673778 PMID:26920127 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28624958 PMID:29974258 PMID:30108342 PMID:30773290 PMID:33193692 PMID:8852662 PMID:9326933 PMID:9536098


    • An association has been curated linking Nphp1 and nephronophthisis 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 NPHP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 117 RGD objects have been annotated to nephronophthisis  (DOID:12712)
  • 13 papers in RGD have been used to annotate Nphp1
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis
  • Original References(s): PMID:10620543 PMID:10839884 PMID:11168925 PMID:15138899 PMID:16199547 PMID:16762963 PMID:17576681 PMID:17855640 PMID:18076122 PMID:19118152 PMID:23559409 PMID:23757202 PMID:24033266 PMID:24154662 PMID:24746959 PMID:25326637 PMID:25525159 PMID:25741868 PMID:26477546 PMID:26673778 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28624958 PMID:29974258 PMID:30773290 PMID:8852662 PMID:9326933 PMID:9536098


    • An association has been curated linking Nphp1 and nephronophthisis 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 NPHP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 117 RGD objects have been annotated to nephronophthisis  (DOID:12712)
  • 13 papers in RGD have been used to annotate Nphp1
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8
  • Original References(s): PMID:10620543 PMID:10839884 PMID:11168925 PMID:15138899 PMID:16199547 PMID:16762963 PMID:17576681 PMID:17855640 PMID:18076122 PMID:19118152 PMID:23559409 PMID:23757202 PMID:24033266 PMID:24154662 PMID:24746959 PMID:25525159 PMID:25741868 PMID:26477546 PMID:26673778 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28624958 PMID:29974258 PMID:30773290 PMID:8852662 PMID:9326933 PMID:9536098


    • An association has been curated linking Nphp1 and nephronophthisis 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 NPHP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 117 RGD objects have been annotated to nephronophthisis  (DOID:12712)
  • 13 papers in RGD have been used to annotate Nphp1
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8
  • Original References(s): PMID:10620543 PMID:10839884 PMID:11168925 PMID:15138899 PMID:16199547 PMID:16762963 PMID:17576681 PMID:17855640 PMID:18076122 PMID:19118152 PMID:23559409 PMID:23661369 PMID:23757202 PMID:24033266 PMID:24154662 PMID:24746959 PMID:25268133 PMID:25326637 PMID:25525159 PMID:25741868 PMID:26477546 PMID:26499951 PMID:26673778 PMID:26920127 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28624958 PMID:29974258 PMID:30108342 PMID:30773290 PMID:33193692 PMID:8852662 PMID:9326933 PMID:9536098


    • An association has been curated linking Nphp1 and nephronophthisis 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 NPHP1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 117 RGD objects have been annotated to nephronophthisis  (DOID:12712)
  • 13 papers in RGD have been used to annotate Nphp1
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis
  • Original References(s): PMID:10620543 PMID:10712196 PMID:10839884 PMID:11168925 PMID:15138899 PMID:16155189 PMID:16199547 PMID:16762963 PMID:17576681 PMID:17855640 PMID:18076122 PMID:19118152 PMID:19755384 PMID:19763152 PMID:20307669 PMID:22406018 PMID:23559409 PMID:23661369 PMID:23757202 PMID:24033266 PMID:24154662 PMID:24746959 PMID:25268133 PMID:25525159 PMID:25741868 PMID:26477546 PMID:26499951 PMID:26673778 PMID:26920127 PMID:27004562 PMID:27491411 PMID:27806791 PMID:28002029 PMID:28492532 PMID:28624958 PMID:29974258 PMID:30108342 PMID:30773290 PMID:31822006 PMID:32173348 PMID:32483926 PMID:33193692 PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524


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