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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking Ush1c and Usher syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Wright AF, etal., Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717.
  • The annotation has been inferred from sequence orthology with USH1C (Homo sapiens) [(TAS) traceable author statement]
  • 86 additional annotations were made from Wright AF, etal., Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717.
  • 70 RGD objects have been annotated to Usher syndrome  (DOID:0050439)
  • 23 papers in RGD have been used to annotate Ush1c


    • An association has been curated linking Ush1c and Usher syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Zwaenepoel I, etal., Hum Mutat. 2001;17(1):34-41.
  • The annotation has been inferred from sequence orthology with USH1C (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Zwaenepoel I, etal., Hum Mutat. 2001;17(1):34-41.
  • 70 RGD objects have been annotated to Usher syndrome  (DOID:0050439)
  • 23 papers in RGD have been used to annotate Ush1c
  • Curation Notes: DNA:mutations:cds:


    • An association has been curated linking Ush1c and Usher syndrome in Mus musculus.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Johnson KR, etal., Hum Mol Genet. 2003 Dec 1;12(23):3075-86. Epub 2003 Sep 30.
  • 5 additional annotations were made from Johnson KR, etal., Hum Mol Genet. 2003 Dec 1;12(23):3075-86. Epub 2003 Sep 30.
  • 70 RGD objects have been annotated to Usher syndrome  (DOID:0050439)
  • 23 papers in RGD have been used to annotate Ush1c


    • An association has been curated linking Ush1c and Usher syndrome in Mus musculus.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Lentz JJ, etal., Dev Neurobiol. 2010 Mar;70(4):253-67. doi: 10.1002/dneu.20771.
  • 2 additional annotations were made from Lentz JJ, etal., Dev Neurobiol. 2010 Mar;70(4):253-67. doi: 10.1002/dneu.20771.
  • 70 RGD objects have been annotated to Usher syndrome  (DOID:0050439)
  • 23 papers in RGD have been used to annotate Ush1c


    • An association has been curated linking Ush1c and Usher syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Lentz JJ, etal., Nat Med. 2013 Mar;19(3):345-50. doi: 10.1038/nm.3106. Epub 2013 Feb 4.
  • The annotation has been inferred from sequence orthology with USH1C (Homo sapiens) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Lentz JJ, etal., Nat Med. 2013 Mar;19(3):345-50. doi: 10.1038/nm.3106. Epub 2013 Feb 4.
  • 70 RGD objects have been annotated to Usher syndrome  (DOID:0050439)
  • 23 papers in RGD have been used to annotate Ush1c
  • Qualifier: treatment


    • An association has been curated linking Ush1c and Usher syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with USH1C (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 70 RGD objects have been annotated to Usher syndrome  (DOID:0050439)
  • 23 papers in RGD have been used to annotate Ush1c
  • Curation Notes: ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
  • Original References(s): PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16679490 PMID:17174357 PMID:17407589 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:23380860 PMID:24033266 PMID:25560255 PMID:25741868 PMID:26969326 PMID:27440999 PMID:27957503 PMID:28041643 PMID:28492532 PMID:30096381 PMID:30303587 PMID:30718709


    • An association has been curated linking Ush1c and Usher syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with USH1C (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 70 RGD objects have been annotated to Usher syndrome  (DOID:0050439)
  • 23 papers in RGD have been used to annotate Ush1c
  • Curation Notes: ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
  • Original References(s): PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:17174357 PMID:17407589 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:24033266 PMID:24498627 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:26969326 PMID:27440999 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29907799 PMID:30096381 PMID:30303587 PMID:30718709 PMID:33095980 PMID:9760205


    • An association has been curated linking Ush1c and Usher syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with USH1C (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 70 RGD objects have been annotated to Usher syndrome  (DOID:0050439)
  • 23 papers in RGD have been used to annotate Ush1c
  • Curation Notes: ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
  • Original References(s): PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 PMID:12107438 PMID:12136232 PMID:12630964 PMID:12702164 PMID:15578223 PMID:15660226 PMID:16199547 PMID:16679490 PMID:17174357 PMID:17407589 PMID:18665195 PMID:20095043 PMID:20142502 PMID:20301442 PMID:20613545 PMID:20671281 PMID:21203349 PMID:21436283 PMID:21487335 PMID:21569298 PMID:22135276 PMID:24033266 PMID:24498627 PMID:25356976 PMID:25468891 PMID:25525159 PMID:25560255 PMID:25741868 PMID:26969326 PMID:27440999 PMID:27957503 PMID:28041643 PMID:28492532 PMID:29276601 PMID:29907799 PMID:30096381 PMID:30303587 PMID:30718709 PMID:31858762 PMID:32581362 PMID:33095980 PMID:38219857 PMID:9760205


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