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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking COL12A1 and Ullrich Congenital Muscular Dystrophy 2 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 COL12A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Ullrich Congenital Muscular Dystrophy 2  (DOID:9002723)
  • 0 papers in RGD have been used to annotate COL12A1


    • An association has been curated linking COL12A1 and Ullrich Congenital Muscular Dystrophy 2 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 COL12A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Ullrich Congenital Muscular Dystrophy 2  (DOID:9002723)
  • 0 papers in RGD have been used to annotate COL12A1
  • Curation Notes: ClinVar Annotator: match by term: COL12A1- Related Disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2
  • Original References(s): PMID:10612821 PMID:16199547 PMID:17576681 PMID:19344236 PMID:224334604 PMID:24334604 PMID:24334769 PMID:25741868 PMID:27159402 PMID:27348394 PMID:28492532 PMID:28973083 PMID:29342313 PMID:29858556 PMID:31127727 PMID:31273343 PMID:33146414 PMID:35903967 PMID:7695699 PMID:8218237 PMID:8601036 PMID:9536098


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