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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Fktn and autosomal recessive limb-girdle muscular dystrophy type 2L in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Godfrey C, etal., Ann Neurol. 2006 Nov;60(5):603-10.
  • The annotation has been inferred from sequence orthology with FKTN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Godfrey C, etal., Ann Neurol. 2006 Nov;60(5):603-10.
  • 3 RGD objects have been annotated to autosomal recessive limb-girdle muscular dystrophy type 2L  (DOID:0110284)
  • 18 papers in RGD have been used to annotate Fktn
  • Curation Notes: DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human)


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