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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking VAPB and spinal muscular atrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Nishimura AL, etal., Am J Hum Genet. 2004 Nov;75(5):822-31. Epub 2004 Sep 15.
  • 8 additional annotations were made from Nishimura AL, etal., Am J Hum Genet. 2004 Nov;75(5):822-31. Epub 2004 Sep 15.
  • 215 RGD objects have been annotated to spinal muscular atrophy  (DOID:12377)
  • 7 papers in RGD have been used to annotate VAPB
  • Qualifier: onset
  • Curation Notes: DNA:missense mutation:cds:p.P56S (human)


    • An association has been curated linking VAPB and spinal muscular atrophy 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:11628371|RGD:11630088|RGD:11644530|RGD:11645806|RGD:11648245|RGD:11650881|RGD:11654337|RGD:11656410|RGD:11657090 (Homo sapiens) & RGD:11628371|RGD:11630088|RGD:11644530|RGD:11645806|RGD:11648245|RGD:11650881|RGD:11654337|RGD:11656410|RGD:11657090 (Homo sapiens) & RGD:11628371|RGD:11630088|RGD:11644530|RGD:11645806|RGD:11648245|RGD:11650881|RGD:11654337|RGD:11656410|RGD:11657090 (Homo sapiens) & RGD:11628371|RGD:11630088|RGD:11644530|RGD:11645806|RGD:11648245|RGD:11650881|RGD:11654337|RGD:11656410|RGD:11657090 (Homo sapiens) & RGD:11628371|RGD:11630088|RGD:11644530|RGD:11645806|RGD:11648245|RGD:11650881|RGD:11654337|RGD:11656410|RGD:11657090 (Homo sapiens) & RGD:11628371|RGD:11630088|RGD:11644530|RGD:11645806|RGD:11648245|RGD:11650881|RGD:11654337|RGD:11656410|RGD:11657090 (Homo sapiens) & RGD:11628371|RGD:11630088|RGD:11644530|RGD:11645806|RGD:11648245|RGD:11650881|RGD:11654337|RGD:11656410|RGD:11657090 (Homo sapiens) & RGD:11628371|RGD:11630088|RGD:11644530|RGD:11645806|RGD:11648245|RGD:11650881|RGD:11654337|RGD:11656410|RGD:11657090 (Homo sapiens) & RGD:11628371|RGD:11630088|RGD:11644530|RGD:11645806|RGD:11648245|RGD:11650881|RGD:11654337|RGD:11656410|RGD:11657090 (Homo sapiens)
  • 215 RGD objects have been annotated to spinal muscular atrophy  (DOID:12377)
  • 7 papers in RGD have been used to annotate VAPB
  • Curation Notes: ClinVar Annotator: match by term: Spinal Muscular Atrophy, Dominant


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