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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Mmp13 and Metaphyseal Anadysplasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Lausch E, etal., Am J Hum Genet. 2009 Aug;85(2):168-78. doi: 10.1016/j.ajhg.2009.06.014. Epub 2009 Jul 16.
  • The annotation has been inferred from sequence orthology with MMP13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Lausch E, etal., Am J Hum Genet. 2009 Aug;85(2):168-78. doi: 10.1016/j.ajhg.2009.06.014. Epub 2009 Jul 16.
  • 2 RGD objects have been annotated to Metaphyseal Anadysplasia  (DOID:9001193)
  • 75 papers in RGD have been used to annotate Mmp13
  • Curation Notes: DNA:missense mutations: :p.F55S, p.M72T, p.H213N (human)


    • An association has been curated linking Mmp13 and Metaphyseal Anadysplasia 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 MMP13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Metaphyseal Anadysplasia  (DOID:9001193)
  • 75 papers in RGD have been used to annotate Mmp13
  • Curation Notes: ClinVar Annotator: match by term: Metaphyseal anadysplasia
  • Original References(s): PMID:25741868 PMID:28492532


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