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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking USH1C and Usher Syndrome Type 1B 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:8558491 (Homo sapiens)
  • 8 RGD objects have been annotated to Usher Syndrome Type 1B  (DOID:9003365)
  • 17 papers in RGD have been used to annotate USH1C
  • Curation Notes: ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
  • Original References(s): PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 PMID:12702164 PMID:17407589 PMID:20301442 PMID:21203349 PMID:21569298 PMID:22135276 PMID:24033266 PMID:25741868 PMID:26969326 PMID:28041643 PMID:28492532 PMID:30303587 PMID:30718709


  • An association has been curated linking USH1C and Usher Syndrome Type 1B 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
  • 8 RGD objects have been annotated to Usher Syndrome Type 1B  (DOID:9003365)
  • 17 papers in RGD have been used to annotate USH1C
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking USH1C and Usher Syndrome Type 1B 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:8570414 (Homo sapiens)
  • 8 RGD objects have been annotated to Usher Syndrome Type 1B  (DOID:9003365)
  • 17 papers in RGD have been used to annotate USH1C
  • Curation Notes: ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
  • Original References(s): PMID:16679490 PMID:20142502 PMID:21487335 PMID:21569298 PMID:22135276 PMID:25741868 PMID:28492532


  • An association has been curated linking USH1C and Usher Syndrome Type 1B 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:8610857 (Homo sapiens)
  • 8 RGD objects have been annotated to Usher Syndrome Type 1B  (DOID:9003365)
  • 17 papers in RGD have been used to annotate USH1C
  • Curation Notes: ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
  • Original References(s): PMID:12136232 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29907799 PMID:30096381


  • An association has been curated linking USH1C and Usher Syndrome Type 1B 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:8558493 (Homo sapiens)
  • 8 RGD objects have been annotated to Usher Syndrome Type 1B  (DOID:9003365)
  • 17 papers in RGD have been used to annotate USH1C
  • Curation Notes: ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
  • Original References(s): PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12630964 PMID:15578223 PMID:15660226 PMID:17174357 PMID:17407589 PMID:18665195 PMID:20095043 PMID:20301442 PMID:20613545 PMID:21436283 PMID:24033266 PMID:25468891 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29276601


  • An association has been curated linking USH1C and Usher Syndrome Type 1B 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:8558496 (Homo sapiens)
  • 8 RGD objects have been annotated to Usher Syndrome Type 1B  (DOID:9003365)
  • 17 papers in RGD have been used to annotate USH1C
  • Curation Notes: ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
  • Original References(s): PMID:10973247 PMID:11139240 PMID:17407589 PMID:20301442 PMID:20671281 PMID:21203349 PMID:25560255 PMID:25741868 PMID:27440999 PMID:27957503 PMID:28492532


  • An association has been curated linking USH1C and Usher Syndrome Type 1B 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:13790253 (Homo sapiens)
  • 8 RGD objects have been annotated to Usher Syndrome Type 1B  (DOID:9003365)
  • 17 papers in RGD have been used to annotate USH1C
  • Curation Notes: ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
  • Original References(s): PMID:10973247 PMID:16199547 PMID:17407589 PMID:20301442 PMID:21203349 PMID:21487335 PMID:22135276 PMID:25741868 PMID:28492532


  • An association has been curated linking USH1C and Usher Syndrome Type 1B 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:8558490 (Homo sapiens)
  • 8 RGD objects have been annotated to Usher Syndrome Type 1B  (DOID:9003365)
  • 17 papers in RGD have been used to annotate USH1C
  • Curation Notes: ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
  • Original References(s): PMID:10973247 PMID:16199547 PMID:17407589 PMID:20301442 PMID:21203349 PMID:25741868 PMID:28492532 PMID:9760205


  • An association has been curated linking USH1C and Usher Syndrome Type 1B 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:13791006 (Homo sapiens)
  • 8 RGD objects have been annotated to Usher Syndrome Type 1B  (DOID:9003365)
  • 17 papers in RGD have been used to annotate USH1C
  • Curation Notes: ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
  • Original References(s): PMID:10973247 PMID:16199547 PMID:17407589 PMID:20301442 PMID:21203349 PMID:24498627 PMID:25468891 PMID:25525159 PMID:25741868 PMID:28492532


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