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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking Pomt1 and Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  (DOID:9001544)
  • 20 papers in RGD have been used to annotate Pomt1
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED


  • An association has been curated linking Pomt1 and Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  (DOID:9001544)
  • 20 papers in RGD have been used to annotate Pomt1


  • An association has been curated linking Pomt1 and Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  (DOID:9001544)
  • 20 papers in RGD have been used to annotate Pomt1
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED
  • Original References(s): PMID:12369018 PMID:15637732 PMID:16575835 PMID:17559086 PMID:22323514 PMID:28492532


  • An association has been curated linking Pomt1 and Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  (DOID:9001544)
  • 20 papers in RGD have been used to annotate Pomt1
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED
  • Original References(s): PMID:17878207


  • An association has been curated linking Pomt1 and Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  (DOID:9001544)
  • 20 papers in RGD have been used to annotate Pomt1
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
  • Original References(s): PMID:16575835


  • An association has been curated linking Pomt1 and Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  (DOID:9001544)
  • 20 papers in RGD have been used to annotate Pomt1
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
  • Original References(s): PMID:11053679 PMID:16575835


  • An association has been curated linking Pomt1 and Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  (DOID:9001544)
  • 20 papers in RGD have been used to annotate Pomt1
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1
  • Original References(s): PMID:14678799 PMID:15792865 PMID:17878207 PMID:25741868


  • An association has been curated linking Pomt1 and Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  (DOID:9001544)
  • 20 papers in RGD have been used to annotate Pomt1
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED
  • Original References(s): PMID:16717220 PMID:17869517 PMID:17878207 PMID:18513969 PMID:20816175 PMID:22549409 PMID:24491487 PMID:26467025 PMID:28492532


  • An association has been curated linking Pomt1 and Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  (DOID:9001544)
  • 20 papers in RGD have been used to annotate Pomt1
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED
  • Original References(s): PMID:12369018 PMID:25741868 PMID:28116189 PMID:28492532


  • An association has been curated linking Pomt1 and Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  (DOID:9001544)
  • 20 papers in RGD have been used to annotate Pomt1
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1
  • Original References(s): PMID:12369018 PMID:16575835 PMID:17559086 PMID:18640039 PMID:18752264 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24304607 PMID:24491487 PMID:25741868 PMID:28492532 PMID:32860008


  • An association has been curated linking Pomt1 and Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 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 POMT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1  (DOID:9001544)
  • 20 papers in RGD have been used to annotate Pomt1
  • Curation Notes: ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1
  • Original References(s): PMID:25741868


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