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 CCDC160 and HRPT-related hyperuricemia in Sus scrofa.        

  • 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 CCDC160 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to HRPT-related hyperuricemia  (DOID:0112127)
  • 0 papers in RGD have been used to annotate CCDC160
  • Curation Notes: ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
  • Original References(s): PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 PMID:23975452 PMID:28492532 PMID:6087154


  • Go Back to source page   Continue to Ontology report