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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking KHDC1L and sialuria 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:127244774 (Homo sapiens)
  • 26 RGD objects have been annotated to sialuria  (DOID:3659)
  • 2 papers in RGD have been used to annotate KHDC1L
  • Curation Notes: ClinVar Annotator: match by term: Salla disease
  • Original References(s): PMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532


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