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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Kif21a and congenital fibrosis of the extraocular muscles 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Yamada K, etal., Nat Genet. 2003 Dec;35(4):318-21. Epub 2003 Nov 2.
  • The annotation has been inferred from sequence orthology with KIF21A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Yamada K, etal., Nat Genet. 2003 Dec;35(4):318-21. Epub 2003 Nov 2.
  • 1 RGD objects have been annotated to congenital fibrosis of the extraocular muscles 1  (DOID:0081015)
  • 9 papers in RGD have been used to annotate Kif21a
  • Curation Notes: DNA:missense mutation:CDS:2860C>T (p.R954W) (human)


    • An association has been curated linking Kif21a and congenital fibrosis of the extraocular muscles 1 in Rattus norvegicus.        

  • 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 KIF21A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital fibrosis of the extraocular muscles 1  (DOID:0081015)
  • 9 papers in RGD have been used to annotate Kif21a


    • An association has been curated linking Kif21a and congenital fibrosis of the extraocular muscles 1 in Rattus norvegicus.        

  • 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 KIF21A (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to congenital fibrosis of the extraocular muscles 1  (DOID:0081015)
  • 9 papers in RGD have been used to annotate Kif21a
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Kif21a and congenital fibrosis of the extraocular muscles 1 in Rattus norvegicus.        

  • 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]
  • 1 RGD objects have been annotated to congenital fibrosis of the extraocular muscles 1  (DOID:0081015)
  • 9 papers in RGD have been used to annotate Kif21a
  • Curation Notes: ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b | ClinVar Annotator: match by term: KIF21A-related condition
  • Original References(s): PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:24656932 PMID:25741868 PMID:28492532 PMID:39033378


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