Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking NADSYN1 and Smith-Lemli-Opitz syndrome in Canis lupus familiaris.        

  • 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 NADSYN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to Smith-Lemli-Opitz syndrome  (DOID:14692)
  • 0 papers in RGD have been used to annotate NADSYN1
  • Curation Notes: ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome
  • Original References(s): PMID:23042628 PMID:24813812 PMID:25040602 PMID:25741868 PMID:28250423 PMID:28492532 PMID:28600779 PMID:31130284 PMID:34168679 PMID:37644014


  • Go Back to source page   Continue to Ontology report