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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Clcn7 and autosomal dominant osteopetrosis 2 in Ictidomys tridecemlineatus.        

  • 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 CLCN7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal dominant osteopetrosis 2  (DOID:0110938)
  • 0 papers in RGD have been used to annotate Clcn7


    • An association has been curated linking Clcn7 and autosomal dominant osteopetrosis 2 in Ictidomys tridecemlineatus.        

  • 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]
  • 1 RGD objects have been annotated to autosomal dominant osteopetrosis 2  (DOID:0110938)
  • 0 papers in RGD have been used to annotate Clcn7
  • Curation Notes: ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2
  • Original References(s): PMID:11468688 PMID:11741829 PMID:14584882 PMID:15111300 PMID:1516225 PMID:16118345 PMID:17164308 PMID:17576681 PMID:19238435 PMID:19543743 PMID:19953639 PMID:20301306 PMID:21527911 PMID:21947783 PMID:21962762 PMID:23296056 PMID:23983121 PMID:25741868 PMID:25741905 PMID:25741916 PMID:26056022 PMID:26365571 PMID:28492532 PMID:29620724 PMID:30229577 PMID:30942407 PMID:31412925 PMID:32369273 PMID:32552793 PMID:32860008 PMID:9536098


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