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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Tubb3 and congenital fibrosis of the extraocular muscles 3A in Mus musculus.        

  • 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 TUBB3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital fibrosis of the extraocular muscles 3A  (DOID:0081017)
  • 5 papers in RGD have been used to annotate Tubb3


    • An association has been curated linking Tubb3 and congenital fibrosis of the extraocular muscles 3A in Mus musculus.        

  • 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 TUBB3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital fibrosis of the extraocular muscles 3A  (DOID:0081017)
  • 5 papers in RGD have been used to annotate Tubb3
  • Curation Notes: ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | ClinVar Annotator: match by term: TUBB3-Related Disorder | ClinVar Annotator: match by term: TUBB3-related condition | ClinVar Annotator: match by term: TUBB3-related tubulinopathy
  • Original References(s): PMID:10393037 PMID:12073023 PMID:15223798 PMID:18414213 PMID:20074521 PMID:20301522 PMID:20829227 PMID:2133536 PMID:23378218 PMID:24257358 PMID:24612975 PMID:25131622 PMID:25482575 PMID:25741868 PMID:26639658 PMID:26775887 PMID:27046833 PMID:28492532 PMID:28677066 PMID:29269699 PMID:29382549 PMID:29453417 PMID:29706646 PMID:31219644 PMID:31226147 PMID:32573066 PMID:34652576 PMID:34863918 PMID:7724178


    • An association has been curated linking Tubb3 and congenital fibrosis of the extraocular muscles 3A in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TUBB3 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to congenital fibrosis of the extraocular muscles 3A  (DOID:0081017)
  • 5 papers in RGD have been used to annotate Tubb3
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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