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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking RPGRIP1L and COACH Syndrome 3 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to COACH Syndrome 3  (DOID:9007694)
  • 8 papers in RGD have been used to annotate RPGRIP1L


    • An association has been curated linking RPGRIP1L and COACH Syndrome 3 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:8555949 (Homo sapiens)
  • 1 RGD objects have been annotated to COACH Syndrome 3  (DOID:9007694)
  • 8 papers in RGD have been used to annotate RPGRIP1L
  • Curation Notes: ClinVar Annotator: match by term: COACH syndrome 3
  • Original References(s): PMID:17558407 PMID:17558409 PMID:17960139 PMID:18565097 PMID:19430481 PMID:21866095 PMID:25741868 PMID:26092869 PMID:28492532


    • An association has been curated linking RPGRIP1L and COACH Syndrome 3 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:11642445 (Homo sapiens)
  • 1 RGD objects have been annotated to COACH Syndrome 3  (DOID:9007694)
  • 8 papers in RGD have been used to annotate RPGRIP1L
  • Curation Notes: ClinVar Annotator: match by term: COACH syndrome 3
  • Original References(s): PMID:25741868 PMID:27434533 PMID:28492532


    • An association has been curated linking RPGRIP1L and COACH Syndrome 3 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:8555958 (Homo sapiens)
  • 1 RGD objects have been annotated to COACH Syndrome 3  (DOID:9007694)
  • 8 papers in RGD have been used to annotate RPGRIP1L
  • Curation Notes: ClinVar Annotator: match by term: COACH syndrome 3
  • Original References(s): PMID:19574260 PMID:26092869


    • An association has been curated linking RPGRIP1L and COACH Syndrome 3 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:8555957 (Homo sapiens)
  • 1 RGD objects have been annotated to COACH Syndrome 3  (DOID:9007694)
  • 8 papers in RGD have been used to annotate RPGRIP1L
  • Curation Notes: ClinVar Annotator: match by term: COACH syndrome 3
  • Original References(s): PMID:17558409 PMID:19574260 PMID:25741868 PMID:26092869 PMID:28492532


    • An association has been curated linking RPGRIP1L and COACH Syndrome 3 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:126755929 (Homo sapiens)
  • 1 RGD objects have been annotated to COACH Syndrome 3  (DOID:9007694)
  • 8 papers in RGD have been used to annotate RPGRIP1L
  • Curation Notes: ClinVar Annotator: match by term: COACH syndrome 3
  • Original References(s): PMID:19430481 PMID:25741868 PMID:28492532


    • An association has been curated linking RPGRIP1L and COACH Syndrome 3 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:13621217|RGD:13836309|RGD:38473863 (Homo sapiens) & RGD:13621217|RGD:13836309|RGD:38473863 (Homo sapiens) & RGD:13621217|RGD:13836309|RGD:38473863 (Homo sapiens)
  • 1 RGD objects have been annotated to COACH Syndrome 3  (DOID:9007694)
  • 8 papers in RGD have been used to annotate RPGRIP1L
  • Curation Notes: ClinVar Annotator: match by term: COACH syndrome 3
  • Original References(s): PMID:17558409 PMID:25741868 PMID:28492532


    • An association has been curated linking RPGRIP1L and COACH Syndrome 3 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:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens) & RGD:11351090|RGD:11578197|RGD:11614317|RGD:11622581|RGD:11636549|RGD:11638826|RGD:126773257|RGD:127310396|RGD:12901435|RGD:13472184|RGD:13519888|RGD:13621216|RGD:13621232|RGD:14722440|RGD:14727562|RGD:15098335|RGD:15158618|RGD:151723020|RGD:151779305|RGD:151824889|RGD:152122402|RGD:26891759|RGD:26898680|RGD:26922558|RGD:28874399|RGD:38459715|RGD:38465747|RGD:38491984|RGD:38493198|RGD:38499532|RGD:40906889|RGD:40906903|RGD:40906904|RGD:9693291 (Homo sapiens)
  • 1 RGD objects have been annotated to COACH Syndrome 3  (DOID:9007694)
  • 8 papers in RGD have been used to annotate RPGRIP1L
  • Curation Notes: ClinVar Annotator: match by term: COACH syndrome 3
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking RPGRIP1L and COACH Syndrome 3 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:11350604 (Homo sapiens)
  • 1 RGD objects have been annotated to COACH Syndrome 3  (DOID:9007694)
  • 8 papers in RGD have been used to annotate RPGRIP1L
  • Curation Notes: ClinVar Annotator: match by term: COACH syndrome 3
  • Original References(s): PMID:19430481 PMID:25741868 PMID:28492532 PMID:28771248 PMID:31390572


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