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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking Gmppb and Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 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 GMPPB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14  (DOID:9000748)
  • 6 papers in RGD have been used to annotate Gmppb


  • An association has been curated linking Gmppb and Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 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 GMPPB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14  (DOID:9000748)
  • 6 papers in RGD have been used to annotate Gmppb
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED
  • Original References(s): PMID:23768512, PMID:24033266, PMID:25681410, PMID:25741868, PMID:25770200, PMID:26133662, PMID:26310427, PMID:27147698, PMID:27766311, PMID:27874200, PMID:28492532, PMID:30311386


  • An association has been curated linking Gmppb and Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 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 GMPPB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14  (DOID:9000748)
  • 6 papers in RGD have been used to annotate Gmppb
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14
  • Original References(s): PMID:23768512, PMID:24780531, PMID:25741868, PMID:26133662, PMID:27766311, PMID:27874200, PMID:28478914, PMID:28492532


  • An association has been curated linking Gmppb and Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 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 GMPPB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14  (DOID:9000748)
  • 6 papers in RGD have been used to annotate Gmppb
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED
  • Original References(s): PMID:19901254, PMID:23768512, PMID:25681410, PMID:25741868, PMID:25770200, PMID:26133662, PMID:26310427, PMID:27766311, PMID:28492532, PMID:29437916, PMID:30257713


  • An association has been curated linking Gmppb and Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 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 GMPPB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14  (DOID:9000748)
  • 6 papers in RGD have been used to annotate Gmppb
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED
  • Original References(s): PMID:25681410, PMID:25741868, PMID:28492532, PMID:28914264, PMID:30257713


  • An association has been curated linking Gmppb and Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 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 GMPPB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14  (DOID:9000748)
  • 6 papers in RGD have been used to annotate Gmppb
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14
  • Original References(s): PMID:19901254, PMID:23768512, PMID:25326637, PMID:25681410, PMID:25741868, PMID:25770200, PMID:26133662


  • An association has been curated linking Gmppb and Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 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 GMPPB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14  (DOID:9000748)
  • 6 papers in RGD have been used to annotate Gmppb
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED
  • Original References(s): PMID:23768512, PMID:23894383, PMID:25741868, PMID:26133662, PMID:28492532


  • An association has been curated linking Gmppb and Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 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 GMPPB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14  (DOID:9000748)
  • 6 papers in RGD have been used to annotate Gmppb
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14
  • Original References(s): PMID:19901254, PMID:23768512, PMID:25681410, PMID:28492532, PMID:28554332


  • An association has been curated linking Gmppb and Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 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 GMPPB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14  (DOID:9000748)
  • 6 papers in RGD have been used to annotate Gmppb
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED
  • Original References(s): PMID:24033266, PMID:24780531, PMID:26133662, PMID:26310427, PMID:27147698, PMID:27527004, PMID:27766311, PMID:27874200, PMID:28478914, PMID:28492532, PMID:29437916, PMID:30060766, PMID:30684953


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