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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Kif21a and congenital fibrosis of the extraocular muscles in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 16 RGD objects have been annotated to congenital fibrosis of the extraocular muscles  (DOID:0080143)
  • 11 papers in RGD have been used to annotate Kif21a
  • Curation Notes: OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219


    • An association has been curated linking Kif21a and congenital fibrosis of the extraocular muscles 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 KIF21A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 16 RGD objects have been annotated to congenital fibrosis of the extraocular muscles  (DOID:0080143)
  • 11 papers in RGD have been used to annotate Kif21a
  • Curation Notes: ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, CONGENITAL
  • Original References(s): PMID:14595441 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:24656932 PMID:25741868 PMID:28492532


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