Send us a Message



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

GENE - TERM ANNOTATION REPORT

72 Annotations Found.

An association has been curated linking PRPH2 and fundus dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Fujiki K, etal., Jpn J Ophthalmol. 1998 May-Jun;42(3):186-92.
  • 2 additional annotations were made from Fujiki K, etal., Jpn J Ophthalmol. 1998 May-Jun;42(3):186-92.
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Qualifier: no_association
  • Curation Notes: DNA:polymorphism:exon:p.E304Q,G338D(human)


  • An association has been curated linking PRPH2 and fundus dystrophy 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:150411389 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:25741868 PMID:36909829


  • An association has been curated linking PRPH2 and fundus dystrophy 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
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:28723922


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8645152 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:11139241 PMID:15370544 PMID:16113362 PMID:16799052 PMID:22466463 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25741868 PMID:28492532 PMID:28559085 PMID:32531846 PMID:33546218 PMID:34906470


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8645157 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:17504850 PMID:25741868 PMID:28492532 PMID:32531846 PMID:8994365


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8645195 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:28492532 PMID:9052636


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8645183 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:16916875 PMID:17653047 PMID:25741868 PMID:28492532 PMID:29453956 PMID:29555955 PMID:30718709 PMID:31213501 PMID:32531846 PMID:9443872


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26901878 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:28492532 PMID:31429209


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8645177 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:11934323 PMID:21071739 PMID:25741868 PMID:28492532 PMID:28559085 PMID:32531846


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8563537 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:11139241 PMID:11853584 PMID:12925772 PMID:16799052 PMID:1684223 PMID:19038374 PMID:23950152 PMID:25741868 PMID:28076437 PMID:28492532 PMID:28559085 PMID:28761320 PMID:29276052 PMID:31456290 PMID:32531846 PMID:9331261


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8645197 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 PMID:17576681 PMID:23950152 PMID:25082885 PMID:25675413 PMID:25741868 PMID:26842753 PMID:28492532 PMID:28559085 PMID:32531846 PMID:9536098


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26910487 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:17296903 PMID:25447119 PMID:25741868 PMID:28492532 PMID:28559085 PMID:32531846


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8563540 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:10532447 PMID:19038374 PMID:19243827 PMID:22003107 PMID:25082885 PMID:25741868 PMID:28492532 PMID:28559085 PMID:29555955 PMID:30718709 PMID:32531846 PMID:8302543 PMID:8485576 PMID:9443872


  • An association has been curated linking PRPH2 and fundus dystrophy 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:14698662 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:25741868 PMID:30718709 PMID:32531846


  • An association has been curated linking PRPH2 and fundus dystrophy 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:12893672 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:25741868 PMID:32531846


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26909400 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:16113362


  • An association has been curated linking PRPH2 and fundus dystrophy 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:13435050 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:10627133 PMID:12042139 PMID:17653047 PMID:21071739 PMID:25447119 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29555955 PMID:29847639 PMID:30718709 PMID:30726412 PMID:31429209 PMID:32531846 PMID:32717343 PMID:9279751


  • An association has been curated linking PRPH2 and fundus dystrophy 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:9480276 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:16024869 PMID:18310263 PMID:21269699 PMID:22863181 PMID:23591405 PMID:25324289 PMID:25474345 PMID:25741868 PMID:28492532 PMID:28559085 PMID:31213501 PMID:32531846 PMID:32660024


  • An association has been curated linking PRPH2 and fundus dystrophy 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:9480275 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:18310263 PMID:25324289 PMID:28492532 PMID:30217183


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8563546 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:11139241 PMID:16799052 PMID:16885924 PMID:17504850 PMID:21071739 PMID:22863181 PMID:25082885 PMID:25741868 PMID:28492532 PMID:32531846 PMID:4142662 PMID:7519821 PMID:7862413


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26910743 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:25390130 PMID:25447119 PMID:28492532 PMID:28559085


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8563552 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:11139241 PMID:14510799 PMID:16799052 PMID:16916875 PMID:17504850 PMID:20213611 PMID:22863181 PMID:23105016 PMID:25412400 PMID:25447119 PMID:25675413 PMID:25741868 PMID:26061163 PMID:26355662 PMID:27365499 PMID:27813578 PMID:28492532 PMID:28559085 PMID:29186038 PMID:29343940 PMID:29555955 PMID:31213501 PMID:32531846 PMID:32660024 PMID:33546218 PMID:7825692 PMID:7880786 PMID:8111389 PMID:8485575 PMID:8485576 PMID:8675410


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8645184 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:16916875 PMID:17653047 PMID:26796962 PMID:27208204 PMID:28492532 PMID:30822235 PMID:31456290 PMID:8994365 PMID:9443872


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8563556 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:11139263 PMID:11801511 PMID:17653047 PMID:19038374 PMID:19243827 PMID:22003107 PMID:22334370 PMID:23950152 PMID:25741868 PMID:25999674 PMID:27813578 PMID:28076437 PMID:28224992 PMID:28492532 PMID:28559085 PMID:29155698 PMID:29555955 PMID:30215852 PMID:30718709 PMID:31456290 PMID:32531846 PMID:33546218 PMID:34906036 PMID:8644804


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26909320 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:25741868


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26909549 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:16916875 PMID:17504850 PMID:22863181 PMID:25675413 PMID:25741868 PMID:26061163 PMID:27365499 PMID:28492532 PMID:29555955 PMID:30926958 PMID:32531846 PMID:33546218 PMID:8111389 PMID:8485575 PMID:8485576 PMID:8675410


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26910362 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:16199547 PMID:16340530 PMID:16916875 PMID:17504850 PMID:25675413 PMID:26061163 PMID:27365499 PMID:28492532 PMID:29555955 PMID:8111389 PMID:8485575 PMID:8485576 PMID:8675410


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8645175 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:1427912 PMID:18050133 PMID:19038374 PMID:25082885 PMID:25741868 PMID:26796962 PMID:28492532 PMID:31456290 PMID:32531846 PMID:9338584


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8692640|RGD:8692641 (Homo sapiens) & RGD:8692640|RGD:8692641 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:16885924 PMID:25741868 PMID:28492532 PMID:31213501


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26910262 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:25741868 PMID:28492532 PMID:28761320 PMID:32531846


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8563550 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:12566026 PMID:16916875 PMID:17249552 PMID:17504850 PMID:22863181 PMID:25675413 PMID:25741868 PMID:26061163 PMID:27365499 PMID:28492532 PMID:29555955 PMID:32531846 PMID:33546218 PMID:8111389 PMID:8485575 PMID:8485576 PMID:8675410


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8563538 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:10800708 PMID:11139241 PMID:11297544 PMID:11427722 PMID:12925772 PMID:16799052 PMID:1684223 PMID:23847139 PMID:25741868 PMID:26720483 PMID:28492532 PMID:32531846 PMID:8202715 PMID:8943002 PMID:9331261


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26910803 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:28492532 PMID:30718709 PMID:32531846


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26910724 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:10862101 PMID:25741868 PMID:28492532 PMID:32037395 PMID:32531846


  • An association has been curated linking PRPH2 and fundus dystrophy 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:13435080 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:28041643 PMID:28492532 PMID:28559085 PMID:31456290


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26910251 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:28492532 PMID:30731082


  • An association has been curated linking PRPH2 and fundus dystrophy 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:10045219 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:25741868 PMID:26061163 PMID:26355662 PMID:28492532


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26902444 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:12925772 PMID:1684223 PMID:19038374 PMID:28076437 PMID:28492532


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26910306 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:12045052 PMID:25741868 PMID:28492532 PMID:32531846 PMID:9338584


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26909713 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:16916875 PMID:17504850 PMID:22863181 PMID:25675413 PMID:25741868 PMID:26061163 PMID:27365499 PMID:28492532 PMID:29555955 PMID:32531846 PMID:33546218 PMID:8111389 PMID:8485575 PMID:8485576 PMID:8675410


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26910690 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:16916875 PMID:17504850 PMID:22863181 PMID:25082885 PMID:25675413 PMID:25741868 PMID:26061163 PMID:27365499 PMID:28492532 PMID:29555955 PMID:31213501 PMID:32531846 PMID:8111389 PMID:8485575 PMID:8485576 PMID:8675410


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26910594 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:14557183 PMID:20213611 PMID:28492532


  • An association has been curated linking PRPH2 and fundus dystrophy 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:13610994 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:16916875 PMID:17504850 PMID:22863181 PMID:25675413 PMID:26061163 PMID:27365499 PMID:28492532 PMID:29555955 PMID:31456290 PMID:32531846 PMID:33546218 PMID:8111389 PMID:8485575 PMID:8485576 PMID:8675410


  • An association has been curated linking PRPH2 and fundus dystrophy 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:127254446 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:16799052 PMID:28492532 PMID:28559085 PMID:29641573 PMID:7754251 PMID:8058286


  • An association has been curated linking PRPH2 and fundus dystrophy 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:150335477 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:10193525 PMID:25447119 PMID:28492532 PMID:31213501 PMID:9587927 PMID:9673478


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8639770 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:16885924 PMID:25741868 PMID:28492532


  • An association has been curated linking PRPH2 and fundus dystrophy 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:11602891|RGD:127311230|RGD:15104110|RGD:156071300|RGD:156324293|RGD:26909874|RGD:26910123|RGD:26910150|RGD:26910852 (Homo sapiens) & RGD:11602891|RGD:127311230|RGD:15104110|RGD:156071300|RGD:156324293|RGD:26909874|RGD:26910123|RGD:26910150|RGD:26910852 (Homo sapiens) & RGD:11602891|RGD:127311230|RGD:15104110|RGD:156071300|RGD:156324293|RGD:26909874|RGD:26910123|RGD:26910150|RGD:26910852 (Homo sapiens) & RGD:11602891|RGD:127311230|RGD:15104110|RGD:156071300|RGD:156324293|RGD:26909874|RGD:26910123|RGD:26910150|RGD:26910852 (Homo sapiens) & RGD:11602891|RGD:127311230|RGD:15104110|RGD:156071300|RGD:156324293|RGD:26909874|RGD:26910123|RGD:26910150|RGD:26910852 (Homo sapiens) & RGD:11602891|RGD:127311230|RGD:15104110|RGD:156071300|RGD:156324293|RGD:26909874|RGD:26910123|RGD:26910150|RGD:26910852 (Homo sapiens) & RGD:11602891|RGD:127311230|RGD:15104110|RGD:156071300|RGD:156324293|RGD:26909874|RGD:26910123|RGD:26910150|RGD:26910852 (Homo sapiens) & RGD:11602891|RGD:127311230|RGD:15104110|RGD:156071300|RGD:156324293|RGD:26909874|RGD:26910123|RGD:26910150|RGD:26910852 (Homo sapiens) & RGD:11602891|RGD:127311230|RGD:15104110|RGD:156071300|RGD:156324293|RGD:26909874|RGD:26910123|RGD:26910150|RGD:26910852 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:28492532


  • An association has been curated linking PRPH2 and fundus dystrophy 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:38470613 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:25472526 PMID:28492532 PMID:29555955 PMID:9338584


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8645172 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:11139241 PMID:11485765 PMID:16799052 PMID:17504850 PMID:25412400 PMID:26796962 PMID:28492532 PMID:31213501 PMID:7862413


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8645206 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:18161617 PMID:25741868 PMID:28492532 PMID:31213501 PMID:31618092 PMID:32531846 PMID:32717343 PMID:33546218


  • An association has been curated linking PRPH2 and fundus dystrophy 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:150335580 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:29630435 PMID:29844330 PMID:31213501


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8645164|RGD:8645188 (Homo sapiens) & RGD:8645164|RGD:8645188 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:8540854


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26921593 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:18310263 PMID:25268133 PMID:28492532 PMID:31213501


  • An association has been curated linking PRPH2 and fundus dystrophy 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:150335457|RGD:150335466|RGD:150335481 (Homo sapiens) & RGD:150335457|RGD:150335466|RGD:150335481 (Homo sapiens) & RGD:150335457|RGD:150335466|RGD:150335481 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:31213501


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8645150 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:11139241 PMID:24629188 PMID:25474345 PMID:28492532 PMID:31213501 PMID:8675410 PMID:8994365


  • An association has been curated linking PRPH2 and fundus dystrophy 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:28869567 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:26161267 PMID:28492532 PMID:31213501


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8645174 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:1427912 PMID:18050133 PMID:23950152 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29847639 PMID:30924848 PMID:31213501 PMID:32531846 PMID:8449524


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8645167 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:18310263 PMID:25741868 PMID:26496393 PMID:26957898 PMID:28492532 PMID:31213501 PMID:9279751


  • An association has been curated linking PRPH2 and fundus dystrophy 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:150335299 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:25698705 PMID:28492532


  • An association has been curated linking PRPH2 and fundus dystrophy 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:28873672 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:26161267 PMID:31213501


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8645144|RGD:8692642 (Homo sapiens) & RGD:8645144|RGD:8692642 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking PRPH2 and fundus dystrophy 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:28873006 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:25268133 PMID:28492532 PMID:31213501


  • An association has been curated linking PRPH2 and fundus dystrophy 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:150335473 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:16916875 PMID:17504850 PMID:25675413 PMID:26061163 PMID:27365499 PMID:28492532 PMID:29555955 PMID:31213501 PMID:8111389 PMID:8485575 PMID:8485576 PMID:8675410


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8563545 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:31213501 PMID:7904791 PMID:8020945


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26909285|RGD:26909286|RGD:26909399|RGD:26910093|RGD:26910354|RGD:26910384|RGD:26910395|RGD:26910716|RGD:26910888|RGD:26910919|RGD:405264540|RGD:405264541|RGD:405264544|RGD:405264545|RGD:405264546|RGD:405264550 (Homo sapiens) & RGD:26909285|RGD:26909286|RGD:26909399|RGD:26910093|RGD:26910354|RGD:26910384|RGD:26910395|RGD:26910716|RGD:26910888|RGD:26910919|RGD:405264540|RGD:405264541|RGD:405264544|RGD:405264545|RGD:405264546|RGD:405264550 (Homo sapiens) & RGD:26909285|RGD:26909286|RGD:26909399|RGD:26910093|RGD:26910354|RGD:26910384|RGD:26910395|RGD:26910716|RGD:26910888|RGD:26910919|RGD:405264540|RGD:405264541|RGD:405264544|RGD:405264545|RGD:405264546|RGD:405264550 (Homo sapiens) & RGD:26909285|RGD:26909286|RGD:26909399|RGD:26910093|RGD:26910354|RGD:26910384|RGD:26910395|RGD:26910716|RGD:26910888|RGD:26910919|RGD:405264540|RGD:405264541|RGD:405264544|RGD:405264545|RGD:405264546|RGD:405264550 (Homo sapiens) & RGD:26909285|RGD:26909286|RGD:26909399|RGD:26910093|RGD:26910354|RGD:26910384|RGD:26910395|RGD:26910716|RGD:26910888|RGD:26910919|RGD:405264540|RGD:405264541|RGD:405264544|RGD:405264545|RGD:405264546|RGD:405264550 (Homo sapiens) & RGD:26909285|RGD:26909286|RGD:26909399|RGD:26910093|RGD:26910354|RGD:26910384|RGD:26910395|RGD:26910716|RGD:26910888|RGD:26910919|RGD:405264540|RGD:405264541|RGD:405264544|RGD:405264545|RGD:405264546|RGD:405264550 (Homo sapiens) & RGD:26909285|RGD:26909286|RGD:26909399|RGD:26910093|RGD:26910354|RGD:26910384|RGD:26910395|RGD:26910716|RGD:26910888|RGD:26910919|RGD:405264540|RGD:405264541|RGD:405264544|RGD:405264545|RGD:405264546|RGD:405264550 (Homo sapiens) & RGD:26909285|RGD:26909286|RGD:26909399|RGD:26910093|RGD:26910354|RGD:26910384|RGD:26910395|RGD:26910716|RGD:26910888|RGD:26910919|RGD:405264540|RGD:405264541|RGD:405264544|RGD:405264545|RGD:405264546|RGD:405264550 (Homo sapiens) & RGD:26909285|RGD:26909286|RGD:26909399|RGD:26910093|RGD:26910354|RGD:26910384|RGD:26910395|RGD:26910716|RGD:26910888|RGD:26910919|RGD:405264540|RGD:405264541|RGD:405264544|RGD:405264545|RGD:405264546|RGD:405264550 (Homo sapiens) & RGD:26909285|RGD:26909286|RGD:26909399|RGD:26910093|RGD:26910354|RGD:26910384|RGD:26910395|RGD:26910716|RGD:26910888|RGD:26910919|RGD:405264540|RGD:405264541|RGD:405264544|RGD:405264545|RGD:405264546|RGD:405264550 (Homo sapiens) & RGD:26909285|RGD:26909286|RGD:26909399|RGD:26910093|RGD:26910354|RGD:26910384|RGD:26910395|RGD:26910716|RGD:26910888|RGD:26910919|RGD:405264540|RGD:405264541|RGD:405264544|RGD:405264545|RGD:405264546|RGD:405264550 (Homo sapiens) & RGD:26909285|RGD:26909286|RGD:26909399|RGD:26910093|RGD:26910354|RGD:26910384|RGD:26910395|RGD:26910716|RGD:26910888|RGD:26910919|RGD:405264540|RGD:405264541|RGD:405264544|RGD:405264545|RGD:405264546|RGD:405264550 (Homo sapiens) & RGD:26909285|RGD:26909286|RGD:26909399|RGD:26910093|RGD:26910354|RGD:26910384|RGD:26910395|RGD:26910716|RGD:26910888|RGD:26910919|RGD:405264540|RGD:405264541|RGD:405264544|RGD:405264545|RGD:405264546|RGD:405264550 (Homo sapiens) & RGD:26909285|RGD:26909286|RGD:26909399|RGD:26910093|RGD:26910354|RGD:26910384|RGD:26910395|RGD:26910716|RGD:26910888|RGD:26910919|RGD:405264540|RGD:405264541|RGD:405264544|RGD:405264545|RGD:405264546|RGD:405264550 (Homo sapiens) & RGD:26909285|RGD:26909286|RGD:26909399|RGD:26910093|RGD:26910354|RGD:26910384|RGD:26910395|RGD:26910716|RGD:26910888|RGD:26910919|RGD:405264540|RGD:405264541|RGD:405264544|RGD:405264545|RGD:405264546|RGD:405264550 (Homo sapiens) & RGD:26909285|RGD:26909286|RGD:26909399|RGD:26910093|RGD:26910354|RGD:26910384|RGD:26910395|RGD:26910716|RGD:26910888|RGD:26910919|RGD:405264540|RGD:405264541|RGD:405264544|RGD:405264545|RGD:405264546|RGD:405264550 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy


  • An association has been curated linking PRPH2 and fundus dystrophy 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:38456131|RGD:38465092 (Homo sapiens) & RGD:38456131|RGD:38465092 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:28492532 PMID:31213501


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26910531 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:28492532 PMID:35260635


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8563543 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:10193525 PMID:10532447 PMID:11139241 PMID:16019073 PMID:17653047 PMID:19038374 PMID:19262438 PMID:20640437 PMID:21071739 PMID:22863181 PMID:24463884 PMID:24608669 PMID:25082885 PMID:25741868 PMID:25803555 PMID:26103963 PMID:26667666 PMID:28492532 PMID:28838317 PMID:29343940 PMID:29555955 PMID:31213501 PMID:31456290 PMID:31574917 PMID:32531846 PMID:33546218 PMID:7493155 PMID:8015786 PMID:8302543 PMID:8485576 PMID:8747448 PMID:8994365 PMID:9010868 PMID:9279751 PMID:9443872


  • An association has been curated linking PRPH2 and fundus dystrophy 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:8645160 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:28492532 PMID:9831753


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26910544|RGD:8645166 (Homo sapiens) & RGD:26910544|RGD:8645166 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:16916875 PMID:17504850 PMID:22863181 PMID:25675413 PMID:26061163 PMID:27365499 PMID:28492532 PMID:29555955 PMID:33546218 PMID:8111389 PMID:8485575 PMID:8485576 PMID:8675410


  • An association has been curated linking PRPH2 and fundus dystrophy 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:13434966 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:16916875 PMID:17504850 PMID:22863181 PMID:24608669 PMID:25675413 PMID:25741868 PMID:26061163 PMID:27365499 PMID:28041643 PMID:28492532 PMID:29555955 PMID:32531846 PMID:32581362 PMID:33546218 PMID:8111389 PMID:8485575 PMID:8485576 PMID:8675410


  • An association has been curated linking PRPH2 and fundus dystrophy 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:26909864|RGD:26910058 (Homo sapiens) & RGD:26909864|RGD:26910058 (Homo sapiens)
  • 1020 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 37 papers in RGD have been used to annotate PRPH2
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:25741868 PMID:28492532 PMID:32531846


  • Go Back to source page   Continue to Ontology report