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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking COL11A2 and otospondylomegaepiphyseal dysplasia, autosomal recessive 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 COL11A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to otospondylomegaepiphyseal dysplasia, autosomal recessive  (DOID:0080026)
  • 0 papers in RGD have been used to annotate COL11A2


    • An association has been curated linking COL11A2 and otospondylomegaepiphyseal dysplasia, autosomal recessive 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 COL11A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to otospondylomegaepiphyseal dysplasia, autosomal recessive  (DOID:0080026)
  • 0 papers in RGD have been used to annotate COL11A2
  • Curation Notes: ClinVar Annotator: match by term: Insley-Astley syndrome | ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive
  • Original References(s): PMID:10677296 PMID:15558753 PMID:15922184 PMID:16637051 PMID:17576681 PMID:21204229 PMID:22246659 PMID:22938506 PMID:23967202 PMID:24033266 PMID:25240749 PMID:25633957 PMID:25741868 PMID:26445815 PMID:26467025 PMID:26691295 PMID:27068579 PMID:28492532 PMID:28692176 PMID:29456477 PMID:29907799 PMID:30311386 PMID:31299979 PMID:31680349 PMID:32747562 PMID:33111345 PMID:35903967 PMID:36597107 PMID:37880672 PMID:7859284 PMID:9188673 PMID:9536098


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