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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking MATN3 and multiple epiphyseal dysplasia 5 in Pan paniscus.        

  • 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 MATN3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to multiple epiphyseal dysplasia 5  (DOID:0070299)
  • 0 papers in RGD have been used to annotate MATN3


    • An association has been curated linking MATN3 and multiple epiphyseal dysplasia 5 in Pan paniscus.        

  • 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 MATN3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to multiple epiphyseal dysplasia 5  (DOID:0070299)
  • 0 papers in RGD have been used to annotate MATN3
  • Curation Notes: ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY | ClinVar Annotator: match by term: Microepiphyseal dysplasia, bilateral hereditary | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, MATN3-related
  • Original References(s): PMID:11479597 PMID:12736871 PMID:12884427 PMID:13849708 PMID:14729835 PMID:15459972 PMID:15948199 PMID:16199550 PMID:16287128 PMID:17517694 PMID:18205203 PMID:18518980 PMID:20301302 PMID:20428984 PMID:21922596 PMID:21965141 PMID:25741868 PMID:28146470 PMID:28492532 PMID:30080953 PMID:31724101


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