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GENE - TERM ANNOTATION REPORT

17 Annotations Found.

An association has been curated linking Large1 and muscular dystrophy-dystroglycanopathy type B6 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 LARGE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B6  (DOID:0110637)
  • 10 papers in RGD have been used to annotate Large1


  • An association has been curated linking Large1 and muscular dystrophy-dystroglycanopathy type B6 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Longman C, etal., Hum Mol Genet 2003 Nov 1;12(21):2853-61. Epub 2003 Sep 9.
  • The annotation has been inferred from sequence orthology with LARGE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Longman C, etal., Hum Mol Genet 2003 Nov 1;12(21):2853-61. Epub 2003 Sep 9.
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B6  (DOID:0110637)
  • 10 papers in RGD have been used to annotate Large1


  • An association has been curated linking Large1 and muscular dystrophy-dystroglycanopathy type B6 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 LARGE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B6  (DOID:0110637)
  • 10 papers in RGD have been used to annotate Large1
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D
  • Original References(s): PMID:28492532


  • An association has been curated linking Large1 and muscular dystrophy-dystroglycanopathy type B6 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 LARGE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B6  (DOID:0110637)
  • 10 papers in RGD have been used to annotate Large1
  • Curation Notes: ClinVar Annotator: match by OMIM:608840
  • Original References(s): PMID:12966029, PMID:15661757, PMID:19067344


  • An association has been curated linking Large1 and muscular dystrophy-dystroglycanopathy type B6 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 LARGE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B6  (DOID:0110637)
  • 10 papers in RGD have been used to annotate Large1
  • Curation Notes: ClinVar Annotator: match by OMIM:608840
  • Original References(s): PMID:12966029


  • An association has been curated linking Large1 and muscular dystrophy-dystroglycanopathy type B6 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 LARGE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B6  (DOID:0110637)
  • 10 papers in RGD have been used to annotate Large1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6
  • Original References(s): PMID:18414213, PMID:25741868, PMID:28492532


  • An association has been curated linking Large1 and muscular dystrophy-dystroglycanopathy type B6 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 LARGE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B6  (DOID:0110637)
  • 10 papers in RGD have been used to annotate Large1
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Large1 and muscular dystrophy-dystroglycanopathy type B6 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 LARGE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B6  (DOID:0110637)
  • 10 papers in RGD have been used to annotate Large1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6
  • Original References(s): PMID:25741868, PMID:28454995, PMID:28492532


  • An association has been curated linking Large1 and muscular dystrophy-dystroglycanopathy type B6 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 LARGE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B6  (DOID:0110637)
  • 10 papers in RGD have been used to annotate Large1
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D
  • Original References(s): PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Large1 and muscular dystrophy-dystroglycanopathy type B6 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 LARGE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B6  (DOID:0110637)
  • 10 papers in RGD have been used to annotate Large1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6
  • Original References(s): PMID:17878207, PMID:18414213, PMID:26467025, PMID:28492532


  • An association has been curated linking Large1 and muscular dystrophy-dystroglycanopathy type B6 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 LARGE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B6  (DOID:0110637)
  • 10 papers in RGD have been used to annotate Large1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6
  • Original References(s): PMID:26467025, PMID:28492532


  • An association has been curated linking Large1 and muscular dystrophy-dystroglycanopathy type B6 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 LARGE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B6  (DOID:0110637)
  • 10 papers in RGD have been used to annotate Large1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6
  • Original References(s): PMID:24709677, PMID:28492532


  • An association has been curated linking Large1 and muscular dystrophy-dystroglycanopathy type B6 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 LARGE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B6  (DOID:0110637)
  • 10 papers in RGD have been used to annotate Large1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6
  • Original References(s): PMID:17878207, PMID:27159402, PMID:28492532


  • An association has been curated linking Large1 and muscular dystrophy-dystroglycanopathy type B6 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 LARGE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B6  (DOID:0110637)
  • 10 papers in RGD have been used to annotate Large1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6
  • Original References(s): PMID:17878207, PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532


  • An association has been curated linking Large1 and muscular dystrophy-dystroglycanopathy type B6 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 LARGE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B6  (DOID:0110637)
  • 10 papers in RGD have been used to annotate Large1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6
  • Original References(s): PMID:25741868, PMID:26467025


  • An association has been curated linking Large1 and muscular dystrophy-dystroglycanopathy type B6 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 LARGE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B6  (DOID:0110637)
  • 10 papers in RGD have been used to annotate Large1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6
  • Original References(s): PMID:25741868


  • An association has been curated linking Large1 and muscular dystrophy-dystroglycanopathy type B6 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 LARGE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type B6  (DOID:0110637)
  • 10 papers in RGD have been used to annotate Large1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.