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GENE - TERM ANNOTATION REPORT

32 Annotations Found.

An association has been curated linking NDP and Norrie disease 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:8561828 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:9382152


  • An association has been curated linking NDP and Norrie disease 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:127286313 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:25741868


  • An association has been curated linking NDP and Norrie disease 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:8561833 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:8990009


  • An association has been curated linking NDP and Norrie disease 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:8561814 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:1307245


  • An association has been curated linking NDP and Norrie disease 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:8561834 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:8990009


  • An association has been curated linking NDP and Norrie disease 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:8561820 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:8268931


  • An association has been curated linking NDP and Norrie disease 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:8561831 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:10484772


  • An association has been curated linking NDP and Norrie disease 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:8561816 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:1303264


  • An association has been curated linking NDP and Norrie disease 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:8561832 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:17334993


  • An association has been curated linking NDP and Norrie disease 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:8561824 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:8069314


  • An association has been curated linking NDP and Norrie disease 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:8561827 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:8790105


  • An association has been curated linking NDP and Norrie disease 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:8561825 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:9143918


  • An association has been curated linking NDP and Norrie disease 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:8561818 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:1303264


  • An association has been curated linking NDP and Norrie disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP


  • An association has been curated linking NDP and Norrie disease 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:9688378 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:1307245 PMID:15776010 PMID:22563645 PMID:23141577 PMID:28492532


  • An association has been curated linking NDP and Norrie disease 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:12741772 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria


  • An association has been curated linking NDP and Norrie disease 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:11633787 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:25741868


  • An association has been curated linking NDP and Norrie disease 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:150453625 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:25741868


  • An association has been curated linking NDP and Norrie disease 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:151662802 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:1303235 PMID:20385941 PMID:25741868


  • An association has been curated linking NDP and Norrie disease 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:8561821 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:25711638 PMID:28492532 PMID:7627181 PMID:8240113


  • An association has been curated linking NDP and Norrie disease 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:8561817 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:1303264 PMID:14635119 PMID:28492532


  • An association has been curated linking NDP and Norrie disease 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:155798814 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:11748312 PMID:16970763 PMID:25741868 PMID:30452590


  • An association has been curated linking NDP and Norrie disease 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:155267858 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:25741868


  • An association has been curated linking NDP and Norrie disease 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:155798545 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:11748312 PMID:25741868


  • An association has been curated linking NDP and Norrie disease 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:8561822 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:14635119 PMID:26547627 PMID:28492532 PMID:7627181 PMID:7814011


  • An association has been curated linking NDP and Norrie disease 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:152999064 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:14635119 PMID:25741868 PMID:26547627 PMID:28492532 PMID:31030433 PMID:7627181 PMID:7814011


  • An association has been curated linking NDP and Norrie disease 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:21405077 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:14635119 PMID:25741868 PMID:28492532 PMID:30311386 PMID:31456290


  • An association has been curated linking NDP and Norrie disease 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:8639624 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:10773814 PMID:17296899 PMID:20340138 PMID:22786811 PMID:25741868 PMID:28492532 PMID:30097784 PMID:30452590


  • An association has been curated linking NDP and Norrie disease in Homo sapiens.        

  • The association was inferred from sequence or structural similarity (ISS)
  •  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Ndp (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: OMIM:310600


  • An association has been curated linking NDP and Norrie disease 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
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking NDP and Norrie disease 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:8561815 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:11337749 PMID:1307245 PMID:25741868


  • An association has been curated linking NDP and Norrie disease 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:8561823 (Homo sapiens)
  • 5 RGD objects have been annotated to Norrie disease  (DOID:0060844)
  • 10 papers in RGD have been used to annotate NDP
  • Curation Notes: ClinVar Annotator: match by term: Atrophia bulborum hereditaria
  • Original References(s): PMID:17296899 PMID:20491809 PMID:25741868 PMID:26158506 PMID:28492532 PMID:7558002 PMID:7795608 PMID:8535448 PMID:8832723 PMID:9143917


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