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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking SCNN1D and Peroxisome Biogenesis Disorder, Complementation Group 7 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:151799111 (Homo sapiens)
  • 76 RGD objects have been annotated to Peroxisome Biogenesis Disorder, Complementation Group 7  (DOID:9008179)
  • 3 papers in RGD have been used to annotate SCNN1D
  • Curation Notes: ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7
  • Original References(s): PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 PMID:9683594


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