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GENE - TERM ANNOTATION REPORT

39 Annotations Found.

An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10052400 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:15805161 PMID:25701400 PMID:28492532


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11350895 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:15108277 PMID:25741868 PMID:28492532


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:9693200 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:15108277 PMID:15805161 PMID:21228398 PMID:25741868 PMID:28492532


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8643342 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:15698423 PMID:15805161 PMID:25741868 PMID:28492532 PMID:32359821 PMID:35715958


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10042062 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:19914852 PMID:25741868 PMID:28375157


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Gallagher AR, etal., Am J Pathol. 2008 Feb;172(2):417-29. doi: 10.2353/ajpath.2008.070381. Epub 2008 Jan 17.
  • The annotation has been inferred from sequence orthology with Pkhd1 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 5 additional annotations were made from Gallagher AR, etal., Am J Pathol. 2008 Feb;172(2):417-29. doi: 10.2353/ajpath.2008.070381. Epub 2008 Jan 17.
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14699189 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:15698423 PMID:16199545 PMID:19914852 PMID:20413436 PMID:25741868 PMID:27225849 PMID:27752906 PMID:28492532 PMID:33426401 PMID:33437033 PMID:33940108


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8596297 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:12506140 PMID:15698423 PMID:19914852 PMID:19940839 PMID:20413436 PMID:22415584 PMID:25741868 PMID:27225849 PMID:28375157 PMID:28492532


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14708564 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:19940839 PMID:28492532


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11644061 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:12874454 PMID:28492532


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10048400 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:16133180 PMID:25741868 PMID:27225849 PMID:28492532 PMID:33845788


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13516785 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:15698423 PMID:25525159 PMID:25646624 PMID:25741868 PMID:28492532 PMID:33112055


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14699518 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:15698423 PMID:15805161 PMID:16133180 PMID:19940839 PMID:25741868 PMID:28492532 PMID:30507656


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13787100 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:12874454 PMID:15805161 PMID:19914852


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12743085 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:15698423 PMID:15805161 PMID:25646624 PMID:25741868 PMID:28492532


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14693317 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:25741868 PMID:28375157


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10048780 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:15805161 PMID:16523049 PMID:25741868 PMID:26489027 PMID:28492532


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8596291 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:19914852 PMID:20413436 PMID:21274727 PMID:25124979 PMID:25741868 PMID:26695994 PMID:27225849 PMID:28375157 PMID:28492532 PMID:30773290 PMID:32799815 PMID:33532864


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8643308 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:15108281 PMID:15805161 PMID:16133180 PMID:19940839 PMID:25741868 PMID:28492532 PMID:30650191 PMID:33532864


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11637570 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:12846734 PMID:15805161 PMID:25741868 PMID:28492532 PMID:33940108


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13833520 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:12874454 PMID:19940839 PMID:25741868 PMID:28492532 PMID:30275481 PMID:31589614 PMID:32384486 PMID:33282801


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:9693201 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:15805161 PMID:16876319 PMID:21228398 PMID:25326637 PMID:25741868 PMID:26673778 PMID:27225849 PMID:28492532 PMID:28862642


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11637000|RGD:11640318|RGD:11644068|RGD:12889033|RGD:13442733|RGD:13516104 (Homo sapiens) & RGD:11637000|RGD:11640318|RGD:11644068|RGD:12889033|RGD:13442733|RGD:13516104 (Homo sapiens) & RGD:11637000|RGD:11640318|RGD:11644068|RGD:12889033|RGD:13442733|RGD:13516104 (Homo sapiens) & RGD:11637000|RGD:11640318|RGD:11644068|RGD:12889033|RGD:13442733|RGD:13516104 (Homo sapiens) & RGD:11637000|RGD:11640318|RGD:11644068|RGD:12889033|RGD:13442733|RGD:13516104 (Homo sapiens) & RGD:11637000|RGD:11640318|RGD:11644068|RGD:12889033|RGD:13442733|RGD:13516104 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10042045 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:1189128 PMID:11898128 PMID:12874454 PMID:15805161 PMID:16133180 PMID:19914852 PMID:20413436 PMID:25701400 PMID:25741868 PMID:25741905 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27894351 PMID:28492532 PMID:29068549 PMID:31130284 PMID:31844813 PMID:31980526 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12881297 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:12874454 PMID:14741187 PMID:15698423 PMID:20413436 PMID:25741868 PMID:26489029 PMID:27752906 PMID:28492532 PMID:33940108


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10052400 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:15805161 PMID:25701400 PMID:25741868 PMID:28492532


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:151708922 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:25741868


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13522831 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:19914852 PMID:25741868 PMID:27225849 PMID:27752906 PMID:28492532 PMID:28578020 PMID:31738409 PMID:33123899


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10042081 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:15805161 PMID:24984783 PMID:25193386 PMID:25741868 PMID:28492532


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:26889815 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:19940839 PMID:25741868 PMID:27225849 PMID:28492532


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12739996 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:19940839 PMID:24162162 PMID:25741868 PMID:28492532 PMID:29801666


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11644143|RGD:11657759|RGD:126916604 (Homo sapiens) & RGD:11644143|RGD:11657759|RGD:126916604 (Homo sapiens) & RGD:11644143|RGD:11657759|RGD:126916604 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:28492532


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11644061 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:12874454 PMID:25741868 PMID:28492532


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11642526 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:25741868 PMID:28492532 PMID:31395617 PMID:33774617


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10049027 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:15108277 PMID:15108281 PMID:15698423 PMID:16133180 PMID:16523049 PMID:19176689 PMID:19940839 PMID:20460933 PMID:25741868 PMID:28375157 PMID:28492532 PMID:31589614 PMID:32939031


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10053496 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:16133180 PMID:25646624 PMID:25701400 PMID:25741868 PMID:26489027 PMID:27225849 PMID:28492532


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14746874 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:19940839 PMID:28375157 PMID:28492532


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14746872|RGD:14746873 (Homo sapiens) & RGD:14746872|RGD:14746873 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver
  • Original References(s): PMID:28375157


    • An association has been curated linking PKHD1 and polycystic liver disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14397225|RGD:151708916|RGD:151708925|RGD:151708926|RGD:151708931|RGD:151708933|RGD:151708937|RGD:151708959|RGD:151708962|RGD:151708965|RGD:151708966 (Homo sapiens) & RGD:14397225|RGD:151708916|RGD:151708925|RGD:151708926|RGD:151708931|RGD:151708933|RGD:151708937|RGD:151708959|RGD:151708962|RGD:151708965|RGD:151708966 (Homo sapiens) & RGD:14397225|RGD:151708916|RGD:151708925|RGD:151708926|RGD:151708931|RGD:151708933|RGD:151708937|RGD:151708959|RGD:151708962|RGD:151708965|RGD:151708966 (Homo sapiens) & RGD:14397225|RGD:151708916|RGD:151708925|RGD:151708926|RGD:151708931|RGD:151708933|RGD:151708937|RGD:151708959|RGD:151708962|RGD:151708965|RGD:151708966 (Homo sapiens) & RGD:14397225|RGD:151708916|RGD:151708925|RGD:151708926|RGD:151708931|RGD:151708933|RGD:151708937|RGD:151708959|RGD:151708962|RGD:151708965|RGD:151708966 (Homo sapiens) & RGD:14397225|RGD:151708916|RGD:151708925|RGD:151708926|RGD:151708931|RGD:151708933|RGD:151708937|RGD:151708959|RGD:151708962|RGD:151708965|RGD:151708966 (Homo sapiens) & RGD:14397225|RGD:151708916|RGD:151708925|RGD:151708926|RGD:151708931|RGD:151708933|RGD:151708937|RGD:151708959|RGD:151708962|RGD:151708965|RGD:151708966 (Homo sapiens) & RGD:14397225|RGD:151708916|RGD:151708925|RGD:151708926|RGD:151708931|RGD:151708933|RGD:151708937|RGD:151708959|RGD:151708962|RGD:151708965|RGD:151708966 (Homo sapiens) & RGD:14397225|RGD:151708916|RGD:151708925|RGD:151708926|RGD:151708931|RGD:151708933|RGD:151708937|RGD:151708959|RGD:151708962|RGD:151708965|RGD:151708966 (Homo sapiens) & RGD:14397225|RGD:151708916|RGD:151708925|RGD:151708926|RGD:151708931|RGD:151708933|RGD:151708937|RGD:151708959|RGD:151708962|RGD:151708965|RGD:151708966 (Homo sapiens) & RGD:14397225|RGD:151708916|RGD:151708925|RGD:151708926|RGD:151708931|RGD:151708933|RGD:151708937|RGD:151708959|RGD:151708962|RGD:151708965|RGD:151708966 (Homo sapiens)
  • 36 RGD objects have been annotated to polycystic liver disease  (DOID:0050770)
  • 14 papers in RGD have been used to annotate PKHD1
  • Curation Notes: ClinVar Annotator: match by term: Congenital cystic disease of liver


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