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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking DIS3L2 and Perlman syndrome 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 DIS3L2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 45 RGD objects have been annotated to Perlman syndrome  (DOID:0060476)
  • 0 papers in RGD have been used to annotate DIS3L2


    • An association has been curated linking DIS3L2 and Perlman syndrome 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 DIS3L2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 45 RGD objects have been annotated to Perlman syndrome  (DOID:0060476)
  • 0 papers in RGD have been used to annotate DIS3L2
  • Curation Notes: ClinVar Annotator: match by term: Perlman syndrome
  • Original References(s): PMID:10508986 PMID:16199547 PMID:16957732 PMID:17576681 PMID:22306653 PMID:23486540 PMID:23576526 PMID:23594738 PMID:23613427 PMID:23756462 PMID:24141620 PMID:25640679 PMID:25670083 PMID:25741868 PMID:25741875 PMID:26689913 PMID:27153395 PMID:27431325 PMID:28328139 PMID:28492532 PMID:29625052 PMID:30344923 PMID:30359267 PMID:31350202 PMID:31942411 PMID:33332384 PMID:33719213 PMID:34130653 PMID:35495172 PMID:36451132 PMID:6093533 PMID:9536098


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