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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Ctsk and pycnodysostosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Lazner F, etal., Hum Mol Genet 1999;8(10):1839-46.
  • The annotation has been inferred from sequence orthology with Ctsk (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 8 additional annotations were made from Lazner F, etal., Hum Mol Genet 1999;8(10):1839-46.
  • 2 RGD objects have been annotated to pycnodysostosis  (DOID:0080038)
  • 26 papers in RGD have been used to annotate Ctsk


    • An association has been curated linking Ctsk and pycnodysostosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with CTSK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pycnodysostosis  (DOID:0080038)
  • 26 papers in RGD have been used to annotate Ctsk


    • An association has been curated linking Ctsk and pycnodysostosis 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 CTSK (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to pycnodysostosis  (DOID:0080038)
  • 26 papers in RGD have been used to annotate Ctsk
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:15163881


    • An association has been curated linking Ctsk and pycnodysostosis 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 CTSK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pycnodysostosis  (DOID:0080038)
  • 26 papers in RGD have been used to annotate Ctsk
  • Curation Notes: ClinVar Annotator: match by term: Pyknodysostosis
  • Original References(s): PMID:10074491 PMID:10491211 PMID:10571690 PMID:10634420 PMID:10878663 PMID:11181082 PMID:12125807 PMID:12874701 PMID:15070910 PMID:16199547 PMID:17206399 PMID:17397052 PMID:19674475 PMID:20044043 PMID:20814951 PMID:21099701 PMID:21217630 PMID:21569238 PMID:22822386 PMID:23506830 PMID:23786531 PMID:24057333 PMID:24269275 PMID:24767306 PMID:25550899 PMID:25725806 PMID:25741868 PMID:26402641 PMID:26892377 PMID:27092432 PMID:27558267 PMID:28328823 PMID:28492532 PMID:29441215 PMID:29620724 PMID:29796728 PMID:30199612 PMID:31237352 PMID:31680459 PMID:31944631 PMID:33945887 PMID:33963797 PMID:35315254 PMID:37809147 PMID:7663522 PMID:8703060 PMID:8938428 PMID:9529353


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