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GENE - TERM ANNOTATION REPORT

10 Annotations Found.

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

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Ward CJ, etal., Nat Genet 2002 Mar;30(3):259-69.
  • 10 additional annotations were made from Ward CJ, etal., Nat Genet 2002 Mar;30(3):259-69.
  • 42 RGD objects have been annotated to autosomal recessive polycystic kidney disease  (DOID:0110861)
  • 19 papers in RGD have been used to annotate Pkhd1


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

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Ward CJ, etal., Nat Genet 2002 Mar;30(3):259-69.
  • 10 additional annotations were made from Ward CJ, etal., Nat Genet 2002 Mar;30(3):259-69.
  • 42 RGD objects have been annotated to autosomal recessive polycystic kidney disease  (DOID:0110861)
  • 19 papers in RGD have been used to annotate Pkhd1
  • Qualifier: susceptibility
  • Curation Notes: DNA:splice site mutation:intron:IVS35-2A>T


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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ward CJ, etal., Nat Genet 2002 Mar;30(3):259-69.
  • The annotation has been inferred from sequence orthology with PKHD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 additional annotations were made from Ward CJ, etal., Nat Genet 2002 Mar;30(3):259-69.
  • 42 RGD objects have been annotated to autosomal recessive polycystic kidney disease  (DOID:0110861)
  • 19 papers in RGD have been used to annotate Pkhd1
  • Qualifier: susceptibility
  • Curation Notes: DNA:missense mutations, nonsense mutations: :multiple


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

  • The association was inferred from expression pattern (IEP)
    		•  
  • The annotation was made from Zhang MZ, etal., Proc Natl Acad Sci U S A. 2004 Feb 24;101(8):2311-6.
  • 2 additional annotations were made from Zhang MZ, etal., Proc Natl Acad Sci U S A. 2004 Feb 24;101(8):2311-6.
  • 42 RGD objects have been annotated to autosomal recessive polycystic kidney disease  (DOID:0110861)
  • 19 papers in RGD have been used to annotate Pkhd1
  • Curation Notes: protein:decreased expression:kidney


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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Furu L, etal., J Am Soc Nephrol. 2003 Aug;14(8):2004-14.
  • The annotation has been inferred from sequence orthology with PKHD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Furu L, etal., J Am Soc Nephrol. 2003 Aug;14(8):2004-14.
  • 42 RGD objects have been annotated to autosomal recessive polycystic kidney disease  (DOID:0110861)
  • 19 papers in RGD have been used to annotate Pkhd1
  • Qualifier: severity
  • Curation Notes: DNA:missense mutations:cds:


    • An association has been curated linking Pkhd1 and autosomal recessive polycystic kidney disease 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 PKHD1 (Homo sapiens) [(EXP) inferred from experiment]
  • 42 RGD objects have been annotated to autosomal recessive polycystic kidney disease  (DOID:0110861)
  • 19 papers in RGD have been used to annotate Pkhd1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:16133180 PMID:18988797 PMID:19524688 PMID:21685914


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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Woollard JR, etal., Kidney Int. 2007 Aug;72(3):328-36. doi: 10.1038/sj.ki.5002294. Epub 2007 May 23.
  • The annotation has been inferred from sequence orthology with Pkhd1 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 8 additional annotations were made from Woollard JR, etal., Kidney Int. 2007 Aug;72(3):328-36. doi: 10.1038/sj.ki.5002294. Epub 2007 May 23.
  • 42 RGD objects have been annotated to autosomal recessive polycystic kidney disease  (DOID:0110861)
  • 19 papers in RGD have been used to annotate Pkhd1
  • Curation Notes: DNA:deletion:exon:


    • An association has been curated linking Pkhd1 and autosomal recessive 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]
  • 42 RGD objects have been annotated to autosomal recessive polycystic kidney disease  (DOID:0110861)
  • 19 papers in RGD have been used to annotate Pkhd1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
  • Original References(s): PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:12925574 PMID:14741187 PMID:14971004 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:16199547 PMID:16523049 PMID:16632497 PMID:16876319 PMID:17576681 PMID:18414213 PMID:18503009 PMID:19021639 PMID:19176689 PMID:19914852 PMID:19940839 PMID:19940939 PMID:20413436 PMID:20460933 PMID:20575693 PMID:21228398 PMID:21274727 PMID:21493627 PMID:21790888 PMID:21945273 PMID:22034641 PMID:22415584 PMID:22882926 PMID:22995991 PMID:23041322 PMID:23265383 PMID:23389334 PMID:23582048 PMID:23757202 PMID:24009235 PMID:24033266 PMID:24121792 PMID:24162162 PMID:24710345 PMID:24984783 PMID:25114813 PMID:25124979 PMID:25153916 PMID:25193386 PMID:25525159 PMID:25589618 PMID:25640679 PMID:25646624 PMID:25701400 PMID:25741868 PMID:25741880 PMID:25741895 PMID:25741913 PMID:25771912 PMID:25966130 PMID:26139440 PMID:26385851 PMID:26489027 PMID:26489029 PMID:26633542 PMID:26673778 PMID:26695994 PMID:26721323 PMID:27151922 PMID:27225849 PMID:27491411 PMID:27577217 PMID:27595491 PMID:27752906 PMID:27894351 PMID:28170084 PMID:28375157 PMID:28492530 PMID:28492532 PMID:28578020 PMID:28851938 PMID:28862642 PMID:28933340 PMID:29095814 PMID:29520754 PMID:29643536 PMID:29801666 PMID:29956005 PMID:30260789 PMID:30275481 PMID:30343465 PMID:30366773 PMID:30507656 PMID:30566001 PMID:30595564 PMID:30650191 PMID:30655312 PMID:30773290 PMID:30787879 PMID:31130284 PMID:31395954 PMID:31730820 PMID:31738409 PMID:31813136 PMID:31844813 PMID:31938409 PMID:31980526 PMID:32203225 PMID:32256442 PMID:32359821 PMID:32384486 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32576985 PMID:32799815 PMID:32939031 PMID:33059616 PMID:33112055 PMID:33123899 PMID:33226606 PMID:33282801 PMID:33426401 PMID:33437033 PMID:33532864 PMID:33569422 PMID:33716212 PMID:33845788 PMID:33940108 PMID:34008892 PMID:34426522 PMID:9536098


    • An association has been curated linking Pkhd1 and autosomal recessive polycystic kidney disease 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 Pkhd1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 42 RGD objects have been annotated to autosomal recessive polycystic kidney disease  (DOID:0110861)
  • 19 papers in RGD have been used to annotate Pkhd1
  • Curation Notes: OMIM:263200


    • An association has been curated linking Pkhd1 and autosomal recessive 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]
  • 42 RGD objects have been annotated to autosomal recessive polycystic kidney disease  (DOID:0110861)
  • 19 papers in RGD have been used to annotate Pkhd1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I
  • Original References(s): PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:12925574 PMID:14741187 PMID:14971004 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:16199547 PMID:16523049 PMID:16632497 PMID:16876319 PMID:16897190 PMID:17576681 PMID:18414213 PMID:18503009 PMID:18769842 PMID:19021639 PMID:19176689 PMID:19914852 PMID:19940839 PMID:19940939 PMID:20413436 PMID:20460933 PMID:20575693 PMID:21228398 PMID:21274727 PMID:21493627 PMID:21790888 PMID:21945273 PMID:22034641 PMID:22415584 PMID:22882926 PMID:22995991 PMID:23041322 PMID:23265383 PMID:23389334 PMID:23582048 PMID:23757202 PMID:24009235 PMID:24033266 PMID:24121792 PMID:24162162 PMID:24710345 PMID:24984783 PMID:25034658 PMID:25114813 PMID:25124979 PMID:25153916 PMID:25193386 PMID:25326637 PMID:25525159 PMID:25589618 PMID:25640679 PMID:25646624 PMID:25701400 PMID:25741868 PMID:25741880 PMID:25741895 PMID:25741905 PMID:25741913 PMID:25741914 PMID:25771912 PMID:25966130 PMID:26139440 PMID:26385851 PMID:26489027 PMID:26489029 PMID:26633542 PMID:26673778 PMID:26695994 PMID:26721323 PMID:27151922 PMID:27225849 PMID:27491411 PMID:27577217 PMID:27595491 PMID:27752906 PMID:27894351 PMID:28166811 PMID:28170084 PMID:28252636 PMID:28364132 PMID:28375157 PMID:28492530 PMID:28492532 PMID:28578020 PMID:28851938 PMID:28862642 PMID:28933340 PMID:29068549 PMID:29095814 PMID:29520754 PMID:29643536 PMID:29801666 PMID:29947050 PMID:29956005 PMID:30017326 PMID:30260789 PMID:30275481 PMID:30343465 PMID:30366773 PMID:30507656 PMID:30566001 PMID:30586318 PMID:30595564 PMID:30650191 PMID:30655312 PMID:30773290 PMID:30787879 PMID:31010483 PMID:31130284 PMID:31328266 PMID:31395617 PMID:31395954 PMID:31589614 PMID:31624253 PMID:31730820 PMID:31738409 PMID:31813136 PMID:31844813 PMID:31938409 PMID:31980526 PMID:32203225 PMID:32256442 PMID:32304219 PMID:32359821 PMID:32384486 PMID:3239877 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32576985 PMID:32799815 PMID:32901917 PMID:32939031 PMID:33059616 PMID:33059727 PMID:33112055 PMID:33123899 PMID:33226606 PMID:33282801 PMID:33426401 PMID:33437033 PMID:33532864 PMID:33569422 PMID:33716212 PMID:33774617 PMID:33845788 PMID:33940108 PMID:33964006 PMID:34008892 PMID:34032358 PMID:34405919 PMID:34426522 PMID:34487536 PMID:34536170 PMID:34977057 PMID:35314707 PMID:35627109 PMID:35715958 PMID:35778421 PMID:35812281 PMID:36065636 PMID:36307859 PMID:9536098


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