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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking TUBA1A and Congenital fibrosis of extraocular muscles 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:40903812 (Homo sapiens)
  • 18 RGD objects have been annotated to Congenital fibrosis of extraocular muscles  (HP:0001491)
  • 10 papers in RGD have been used to annotate TUBA1A
  • Curation Notes: ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
  • Original References(s): PMID:25741868


    • An association has been curated linking TUBA1A and Congenital fibrosis of extraocular muscles 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:40903811 (Homo sapiens)
  • 18 RGD objects have been annotated to Congenital fibrosis of extraocular muscles  (HP:0001491)
  • 10 papers in RGD have been used to annotate TUBA1A
  • Curation Notes: ClinVar Annotator: match by term: CFEOM
  • Original References(s): PMID:25741868


    • An association has been curated linking TUBA1A and Congenital fibrosis of extraocular muscles 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:40903814 (Homo sapiens)
  • 18 RGD objects have been annotated to Congenital fibrosis of extraocular muscles  (HP:0001491)
  • 10 papers in RGD have been used to annotate TUBA1A
  • Curation Notes: ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
  • Original References(s): PMID:25741868 PMID:33649541


    • An association has been curated linking TUBA1A and Congenital fibrosis of extraocular muscles 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
  • 18 RGD objects have been annotated to Congenital fibrosis of extraocular muscles  (HP:0001491)
  • 10 papers in RGD have been used to annotate TUBA1A
  • Original References(s): ORPHA:45358


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