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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Mmp13 and spondyloepimetaphyseal dysplasia, Missouri type in Chinchilla lanigera.        

  • 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 MMP13 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to spondyloepimetaphyseal dysplasia, Missouri type  (DOID:0080030)
  • 2 papers in RGD have been used to annotate Mmp13


    • An association has been curated linking Mmp13 and spondyloepimetaphyseal dysplasia, Missouri type in Chinchilla lanigera.        

  • 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]
  • 1 RGD objects have been annotated to spondyloepimetaphyseal dysplasia, Missouri type  (DOID:0080030)
  • 2 papers in RGD have been used to annotate Mmp13
  • Curation Notes: ClinVar Annotator: match by term: MMP13-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Missouri type
  • Original References(s): PMID:16167086 PMID:25741868 PMID:28492532 PMID:30439533 PMID:8412645


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