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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Pkhd1 and polycystic kidney disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Hiesberger T, etal., J Clin Invest. 2004 Mar;113(6):814-25.
  • The annotation has been inferred from sequence orthology with Pkhd1 (Mus musculus) [(IEP) inferred from expression pattern]
  • 2 additional annotations were made from Hiesberger T, etal., J Clin Invest. 2004 Mar;113(6):814-25.
  • 157 RGD objects have been annotated to polycystic kidney disease  (DOID:0080322)
  • 19 papers in RGD have been used to annotate Pkhd1
  • Curation Notes: mRNA:decreased expression:kidney


    • An association has been curated linking Pkhd1 and polycystic kidney disease 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 PKHD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 157 RGD objects have been annotated to polycystic kidney disease  (DOID:0080322)
  • 19 papers in RGD have been used to annotate Pkhd1
  • Curation Notes: ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type
  • Original References(s): PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:14741187 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:16523049 PMID:16632497 PMID:16876319 PMID:19914852 PMID:19940839 PMID:19940939 PMID:20413436 PMID:21228398 PMID:21274727 PMID:21790888 PMID:22882926 PMID:23041322 PMID:23582048 PMID:23757202 PMID:24033266 PMID:24162162 PMID:25124979 PMID:25525159 PMID:25646624 PMID:25701400 PMID:25741868 PMID:26673778 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27752906 PMID:27894351 PMID:28375157 PMID:28492530 PMID:28492532 PMID:28862642 PMID:29801666 PMID:29956005 PMID:30343465 PMID:30773290 PMID:31130284 PMID:31813136 PMID:31844813 PMID:31980526 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 PMID:33112055 PMID:33426401 PMID:33437033 PMID:33532864 PMID:33940108 PMID:34008892


    • An association has been curated linking Pkhd1 and polycystic kidney disease 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 PKHD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 157 RGD objects have been annotated to polycystic kidney disease  (DOID:0080322)
  • 19 papers in RGD have been used to annotate Pkhd1
  • Curation Notes: ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type
  • Original References(s): PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:14741187 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:16523049 PMID:16632497 PMID:16876319 PMID:19914852 PMID:19940839 PMID:19940939 PMID:20413436 PMID:21228398 PMID:21274727 PMID:21790888 PMID:22882926 PMID:23041322 PMID:23582048 PMID:23757202 PMID:24033266 PMID:24162162 PMID:25124979 PMID:25326637 PMID:25525159 PMID:25646624 PMID:25701400 PMID:25741868 PMID:25741905 PMID:26673778 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27752906 PMID:27894351 PMID:28375157 PMID:28492530 PMID:28492532 PMID:28862642 PMID:29068549 PMID:29801666 PMID:29956005 PMID:30343465 PMID:30773290 PMID:31130284 PMID:31328266 PMID:31395954 PMID:31813136 PMID:31844813 PMID:31980526 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 PMID:33112055 PMID:33123899 PMID:33426401 PMID:33437033 PMID:33532864 PMID:33940108 PMID:34008892 PMID:34032358


    • An association has been curated linking Pkhd1 and polycystic kidney disease 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 PKHD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 157 RGD objects have been annotated to polycystic kidney disease  (DOID:0080322)
  • 19 papers in RGD have been used to annotate Pkhd1
  • Curation Notes: ClinVar Annotator: match by term: Polycystic kidney disease
  • Original References(s): PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:14741187 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:16523049 PMID:16632497 PMID:16876319 PMID:19914852 PMID:19940839 PMID:19940939 PMID:20413436 PMID:21228398 PMID:21274727 PMID:21790888 PMID:22882926 PMID:23041322 PMID:23582048 PMID:23757202 PMID:24033266 PMID:24162162 PMID:25124979 PMID:25525159 PMID:25646624 PMID:25701400 PMID:25741868 PMID:26673778 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27752906 PMID:27894351 PMID:28375157 PMID:28492530 PMID:28492532 PMID:28862642 PMID:29801666 PMID:29956005 PMID:30343465 PMID:30773290 PMID:31130284 PMID:31395954 PMID:31813136 PMID:31844813 PMID:31980526 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 PMID:33112055 PMID:33123899 PMID:33426401 PMID:33437033 PMID:33532864 PMID:33940108 PMID:34008892


    • An association has been curated linking Pkhd1 and polycystic kidney disease 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 PKHD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 157 RGD objects have been annotated to polycystic kidney disease  (DOID:0080322)
  • 19 papers in RGD have been used to annotate Pkhd1
  • Curation Notes: ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type
  • Original References(s): PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:14741187 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:16523049 PMID:16632497 PMID:16876319 PMID:19914852 PMID:19940839 PMID:19940939 PMID:20413436 PMID:21228398 PMID:21274727 PMID:21790888 PMID:22882926 PMID:23041322 PMID:23582048 PMID:23757202 PMID:24033266 PMID:24162162 PMID:25124979 PMID:25525159 PMID:25646624 PMID:25701400 PMID:25741868 PMID:26673778 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27752906 PMID:27894351 PMID:28375157 PMID:28492530 PMID:28492532 PMID:28862642 PMID:29068549 PMID:29801666 PMID:29956005 PMID:30343465 PMID:30773290 PMID:31130284 PMID:31395954 PMID:31813136 PMID:31844813 PMID:31980526 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 PMID:33112055 PMID:33123899 PMID:33426401 PMID:33437033 PMID:33532864 PMID:33940108 PMID:34008892


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