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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking DES and pulmonary alveolar proteinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8607079 (Homo sapiens)
  • 20 RGD objects have been annotated to pulmonary alveolar proteinosis  (DOID:12120)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Pulmonary alveolar proteinosis
  • Original References(s): PMID:24033266 PMID:24503780 PMID:25741868 PMID:26265630 PMID:26724190 PMID:28341588 PMID:28492532 PMID:30755392 PMID:32268277 PMID:32403337


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