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GENE - TERM ANNOTATION REPORT

10 Annotations Found.

An association has been curated linking POMT1 and Muscular dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 110 RGD objects have been annotated to Muscular dystrophy  (HP:0003560)
  • 12 papers in RGD have been used to annotate POMT1
  • Original References(s): OMIM:236670


    • An association has been curated linking POMT1 and Muscular dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 110 RGD objects have been annotated to Muscular dystrophy  (HP:0003560)
  • 12 papers in RGD have been used to annotate POMT1
  • Original References(s): ORPHA:370980


    • An association has been curated linking POMT1 and Muscular dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 110 RGD objects have been annotated to Muscular dystrophy  (HP:0003560)
  • 12 papers in RGD have been used to annotate POMT1
  • Original References(s): ORPHA:370959


    • An association has been curated linking POMT1 and Muscular dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 110 RGD objects have been annotated to Muscular dystrophy  (HP:0003560)
  • 12 papers in RGD have been used to annotate POMT1
  • Original References(s): OMIM:609308


    • An association has been curated linking POMT1 and Muscular dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 110 RGD objects have been annotated to Muscular dystrophy  (HP:0003560)
  • 12 papers in RGD have been used to annotate POMT1
  • Original References(s): ORPHA:86812


    • An association has been curated linking POMT1 and Muscular dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 110 RGD objects have been annotated to Muscular dystrophy  (HP:0003560)
  • 12 papers in RGD have been used to annotate POMT1
  • Original References(s): ORPHA:899


    • An association has been curated linking POMT1 and Muscular dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 110 RGD objects have been annotated to Muscular dystrophy  (HP:0003560)
  • 12 papers in RGD have been used to annotate POMT1
  • Original References(s): OMIM:613155


    • An association has been curated linking POMT1 and Muscular dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:9691374 (Homo sapiens)
  • 110 RGD objects have been annotated to Muscular dystrophy  (HP:0003560)
  • 12 papers in RGD have been used to annotate POMT1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking POMT1 and Muscular dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8642376 (Homo sapiens)
  • 110 RGD objects have been annotated to Muscular dystrophy  (HP:0003560)
  • 12 papers in RGD have been used to annotate POMT1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy


    • An association has been curated linking POMT1 and Muscular dystrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8642368 (Homo sapiens)
  • 110 RGD objects have been annotated to Muscular dystrophy  (HP:0003560)
  • 12 papers in RGD have been used to annotate POMT1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy
  • Original References(s): PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532


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