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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking TUBB3 and congenital fibrosis of the extraocular muscles in Homo sapiens.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Tubb3 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 18 RGD objects have been annotated to congenital fibrosis of the extraocular muscles  (DOID:0080143)
  • 6 papers in RGD have been used to annotate TUBB3
  • Curation Notes: OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219


    • An association has been curated linking TUBB3 and congenital fibrosis of the 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:12913568 (Homo sapiens)
  • 18 RGD objects have been annotated to congenital fibrosis of the extraocular muscles  (DOID:0080143)
  • 6 papers in RGD have been used to annotate TUBB3
  • Curation Notes: ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
  • Original References(s): PMID:25741868


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