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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Crb1 and Leber congenital amaurosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Henderson RH, etal., Br J Ophthalmol. 2011 Jun;95(6):811-7. doi: 10.1136/bjo.2010.186882. Epub 2010 Oct 17.
  • The annotation has been inferred from sequence orthology with CRB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from Henderson RH, etal., Br J Ophthalmol. 2011 Jun;95(6):811-7. doi: 10.1136/bjo.2010.186882. Epub 2010 Oct 17.
  • 131 RGD objects have been annotated to Leber congenital amaurosis  (DOID:14791)
  • 18 papers in RGD have been used to annotate Crb1
  • Curation Notes: DNA:mutations:exon:multiple


    • An association has been curated linking Crb1 and Leber congenital amaurosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Yang L, etal., Mol Vis. 2014 Mar 26;20:359-67. eCollection 2014.
  • The annotation has been inferred from sequence orthology with CRB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Yang L, etal., Mol Vis. 2014 Mar 26;20:359-67. eCollection 2014.
  • 131 RGD objects have been annotated to Leber congenital amaurosis  (DOID:14791)
  • 18 papers in RGD have been used to annotate Crb1
  • Curation Notes: DNA:missense mutations, deletion, nonsense mutation, haplotype:exon:multiple


    • An association has been curated linking Crb1 and Leber congenital amaurosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Pellissier LP, etal., PLoS Genet. 2013 Dec;9(12):e1003976. doi: 10.1371/journal.pgen.1003976. Epub 2013 Dec 5.
  • The annotation has been inferred from sequence orthology with Crb1 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 5 additional annotations were made from Pellissier LP, etal., PLoS Genet. 2013 Dec;9(12):e1003976. doi: 10.1371/journal.pgen.1003976. Epub 2013 Dec 5.
  • 131 RGD objects have been annotated to Leber congenital amaurosis  (DOID:14791)
  • 18 papers in RGD have been used to annotate Crb1


    • An association has been curated linking Crb1 and Leber congenital amaurosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with CRB1 (Homo sapiens) [(EXP) inferred from experiment]
  • 131 RGD objects have been annotated to Leber congenital amaurosis  (DOID:14791)
  • 18 papers in RGD have been used to annotate Crb1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:11389483


    • An association has been curated linking Crb1 and Leber congenital amaurosis in Rattus norvegicus.        

  • 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 CRB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 131 RGD objects have been annotated to Leber congenital amaurosis  (DOID:14791)
  • 18 papers in RGD have been used to annotate Crb1
  • Curation Notes: ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Retinal blindness, congenital
  • Original References(s): PMID:10508521 PMID:11231775 PMID:11389483 PMID:12567265 PMID:12843338 PMID:1389483 PMID:15024725 PMID:15459956 PMID:16123401 PMID:16199547 PMID:16272259 PMID:16543197 PMID:17128490 PMID:17297678 PMID:17724218 PMID:17964524 PMID:18055816 PMID:18682808 PMID:19140180 PMID:19401883 PMID:20079931 PMID:20301475 PMID:20591486 PMID:20683928 PMID:20956273 PMID:21602930 PMID:21757580 PMID:22065545 PMID:22164218 PMID:22968130 PMID:23105016 PMID:23379534 PMID:23449718 PMID:23462753 PMID:23591405 PMID:23592920 PMID:23847139 PMID:24033266 PMID:24265693 PMID:24512366 PMID:24715753 PMID:24938718 PMID:25133751 PMID:25323024 PMID:25356976 PMID:25377065 PMID:25412400 PMID:25474345 PMID:25741868 PMID:26147992 PMID:26667666 PMID:26872607 PMID:26957898 PMID:27096895 PMID:27113771 PMID:27157150 PMID:27208204 PMID:27258436 PMID:27628848 PMID:28005958 PMID:28041643 PMID:28181551 PMID:28341475 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28714225 PMID:28800606 PMID:28819299 PMID:29178642 PMID:29186038 PMID:29391521 PMID:30576320 PMID:30718709 PMID:31456290 PMID:31896775 PMID:32141364 PMID:33342761 PMID:33546218 PMID:33576794


    • An association has been curated linking Crb1 and Leber congenital amaurosis in Rattus norvegicus.        

  • 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 CRB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 131 RGD objects have been annotated to Leber congenital amaurosis  (DOID:14791)
  • 18 papers in RGD have been used to annotate Crb1
  • Curation Notes: ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital
  • Original References(s): PMID:10508521 PMID:11231775 PMID:11389483 PMID:12567265 PMID:12843338 PMID:1389483 PMID:15024725 PMID:15459956 PMID:16123401 PMID:16199547 PMID:16272259 PMID:16543197 PMID:17128490 PMID:17297678 PMID:17525851 PMID:17576681 PMID:17724218 PMID:17964524 PMID:18055816 PMID:18682808 PMID:19140180 PMID:19401883 PMID:20079931 PMID:20301475 PMID:20591486 PMID:20683928 PMID:20956273 PMID:21602930 PMID:21757580 PMID:22065545 PMID:22164218 PMID:22968130 PMID:23105016 PMID:23379534 PMID:23449718 PMID:23462753 PMID:23591405 PMID:23592920 PMID:23661368 PMID:23847139 PMID:24033266 PMID:24265693 PMID:24512366 PMID:24535598 PMID:24715753 PMID:24938718 PMID:25133751 PMID:25323024 PMID:25356976 PMID:25377065 PMID:25412400 PMID:25474345 PMID:25741868 PMID:25741915 PMID:25741916 PMID:26147992 PMID:26312378 PMID:26667666 PMID:26872607 PMID:26957898 PMID:27096895 PMID:27113771 PMID:27157150 PMID:27208204 PMID:27258436 PMID:27353947 PMID:27628848 PMID:27806333 PMID:28005958 PMID:28041643 PMID:28181551 PMID:28341475 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28714225 PMID:28800606 PMID:28819299 PMID:29068479 PMID:29178642 PMID:29391521 PMID:29641573 PMID:30029497 PMID:30576320 PMID:30718709 PMID:31456290 PMID:31725702 PMID:31736247 PMID:31896775 PMID:32141364 PMID:32581362 PMID:32865313 PMID:33090715 PMID:33342761 PMID:33546218 PMID:33576794 PMID:33921607 PMID:34884448 PMID:34906470 PMID:35318874 PMID:36909829 PMID:9536098


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