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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking RUNX2 and metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome in Canis lupus familiaris.        

  • 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 RUNX2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome  (DOID:0111513)
  • 0 papers in RGD have been used to annotate RUNX2


    • An association has been curated linking RUNX2 and metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome in Canis lupus familiaris.        

  • 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 RUNX2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome  (DOID:0111513)
  • 0 papers in RGD have been used to annotate RUNX2
  • Curation Notes: ClinVar Annotator: match by term: Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly | ClinVar Annotator: match by term: RUNX2-related condition
  • Original References(s): PMID:10521292 PMID:10545612 PMID:11857736 PMID:16140555 PMID:19767586 PMID:20376792 PMID:22023169 PMID:23290074 PMID:24222232 PMID:24634175 PMID:25741868 PMID:28056872 PMID:28492532 PMID:28505335 PMID:29891876


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