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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Spata7 and Leber congenital amaurosis 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with SPATA7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to Leber congenital amaurosis 3  (DOID:0110331)
  • 6 papers in RGD have been used to annotate Spata7


    • An association has been curated linking Spata7 and Leber congenital amaurosis 3 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 SPATA7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to Leber congenital amaurosis 3  (DOID:0110331)
  • 6 papers in RGD have been used to annotate Spata7
  • Curation Notes: ClinVar Annotator: match by term: Leber congenital amaurosis 3 | ClinVar Annotator: match by term: Retinitis pigmentosa 94, variable age at onset
  • Original References(s): PMID:16199547 PMID:17576681 PMID:19268277 PMID:20104588 PMID:20301475 PMID:21310915 PMID:21602930 PMID:22136677 PMID:22334370 PMID:23847139 PMID:24033266 PMID:24265693 PMID:24938718 PMID:25133751 PMID:25412400 PMID:25741868 PMID:26047050 PMID:26261414 PMID:26306921 PMID:26355662 PMID:26854980 PMID:27208204 PMID:28481129 PMID:28492532 PMID:28714225 PMID:29186038 PMID:29411205 PMID:30054919 PMID:31908400 PMID:32865313 PMID:36909829 PMID:9536098


    • An association has been curated linking Spata7 and Leber congenital amaurosis 3 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 SPATA7 (Homo sapiens) [(EXP) inferred from experiment]
  • 8 RGD objects have been annotated to Leber congenital amaurosis 3  (DOID:0110331)
  • 6 papers in RGD have been used to annotate Spata7
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Spata7 and Leber congenital amaurosis 3 in Rattus norvegicus.        

  • 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 Spata7 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to Leber congenital amaurosis 3  (DOID:0110331)
  • 6 papers in RGD have been used to annotate Spata7
  • Curation Notes: OMIM:604232


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