Send us a Message



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

GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking CFAP418 and Bardet-Biedl syndrome 21 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:12892677 (Homo sapiens)
  • 3 RGD objects have been annotated to Bardet-Biedl syndrome 21  (DOID:0081010)
  • 4 papers in RGD have been used to annotate CFAP418
  • Curation Notes: ClinVar Annotator: match by term: Bardet-biedl syndrome 21
  • Original References(s): PMID:27008867


  • An association has been curated linking CFAP418 and Bardet-Biedl syndrome 21 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 3 RGD objects have been annotated to Bardet-Biedl syndrome 21  (DOID:0081010)
  • 4 papers in RGD have been used to annotate CFAP418


  • An association has been curated linking CFAP418 and Bardet-Biedl syndrome 21 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:8568849 (Homo sapiens)
  • 3 RGD objects have been annotated to Bardet-Biedl syndrome 21  (DOID:0081010)
  • 4 papers in RGD have been used to annotate CFAP418
  • Curation Notes: ClinVar Annotator: match by term: Bardet-biedl syndrome 21
  • Original References(s): PMID:22177090 PMID:25515582 PMID:26355662 PMID:26854863 PMID:27008867 PMID:28492532 PMID:30029497 PMID:31456290


  • An association has been curated linking CFAP418 and Bardet-Biedl syndrome 21 in Homo sapiens.        

  • The association was inferred from experiment (EXP)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 3 RGD objects have been annotated to Bardet-Biedl syndrome 21  (DOID:0081010)
  • 4 papers in RGD have been used to annotate CFAP418
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking CFAP418 and Bardet-Biedl syndrome 21 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:13517301 (Homo sapiens)
  • 3 RGD objects have been annotated to Bardet-Biedl syndrome 21  (DOID:0081010)
  • 4 papers in RGD have been used to annotate CFAP418
  • Curation Notes: ClinVar Annotator: match by term: Bardet-biedl syndrome 21
  • Original References(s): PMID:25741868 PMID:28492532 PMID:29127258


  • An association has been curated linking CFAP418 and Bardet-Biedl syndrome 21 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:21405313|RGD:21405314 (Homo sapiens) & RGD:21405313|RGD:21405314 (Homo sapiens)
  • 3 RGD objects have been annotated to Bardet-Biedl syndrome 21  (DOID:0081010)
  • 4 papers in RGD have been used to annotate CFAP418
  • Curation Notes: ClinVar Annotator: match by term: Bardet-biedl syndrome 21
  • Original References(s): PMID:25741868


  • Go Back to source page   Continue to Ontology report