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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Clcn7 and osteopetrosis 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 CLCN7 (Homo sapiens) [(EXP) inferred from experiment]
  • 29 RGD objects have been annotated to osteopetrosis  (DOID:13533)
  • 15 papers in RGD have been used to annotate Clcn7
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Clcn7 and osteopetrosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Kornak U, etal., Cell 2001 Jan 26;104(2):205-15.
  • The annotation has been inferred from sequence orthology with Clcn7 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 5 additional annotations were made from Kornak U, etal., Cell 2001 Jan 26;104(2):205-15.
  • 29 RGD objects have been annotated to osteopetrosis  (DOID:13533)
  • 15 papers in RGD have been used to annotate Clcn7


    • An association has been curated linking Clcn7 and osteopetrosis 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 CLCN7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 29 RGD objects have been annotated to osteopetrosis  (DOID:13533)
  • 15 papers in RGD have been used to annotate Clcn7
  • Curation Notes: ClinVar Annotator: match by term: Albers-Schoenberg disease | ClinVar Annotator: match by term: Osteopetrosis
  • Original References(s): PMID:11741829 PMID:14584882 PMID:15111300 PMID:16234969 PMID:17164308 PMID:19543743 PMID:20301306 PMID:21527911 PMID:21962762 PMID:23983121 PMID:25410126 PMID:25741868 PMID:25741905 PMID:26365571 PMID:28492532 PMID:29595814 PMID:30942407 PMID:31412925 PMID:32369273


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