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GENE - TERM ANNOTATION REPORT

10 Annotations Found.

An association has been curated linking Afg3l2 and spinocerebellar ataxia type 28 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Di Bella D, etal., Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544. Epub 2010 Mar 7.
  • The annotation has been inferred from sequence orthology with AFG3L2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Di Bella D, etal., Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544. Epub 2010 Mar 7.
  • 2 RGD objects have been annotated to spinocerebellar ataxia type 28  (DOID:0050977)
  • 14 papers in RGD have been used to annotate Afg3l2
  • Curation Notes: DNA:missense mutations: :multiple


    • An association has been curated linking Afg3l2 and spinocerebellar ataxia type 28 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Cagnoli C, etal., Hum Mutat. 2010 Oct;31(10):1117-24. doi: 10.1002/humu.21342.
  • The annotation has been inferred from sequence orthology with AFG3L2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Cagnoli C, etal., Hum Mutat. 2010 Oct;31(10):1117-24. doi: 10.1002/humu.21342.
  • 2 RGD objects have been annotated to spinocerebellar ataxia type 28  (DOID:0050977)
  • 14 papers in RGD have been used to annotate Afg3l2
  • Curation Notes: DNA:missense mutations:exon:p.M666V (c.1996A>G), p.G671R (c.2011G>A) (human)


    • An association has been curated linking Afg3l2 and spinocerebellar ataxia type 28 in Mus musculus.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Maltecca F, etal., J Clin Invest. 2015 Jan;125(1):263-74. doi: 10.1172/JCI74770. Epub 2014 Dec 8.
  • 2 additional annotations were made from Maltecca F, etal., J Clin Invest. 2015 Jan;125(1):263-74. doi: 10.1172/JCI74770. Epub 2014 Dec 8.
  • 2 RGD objects have been annotated to spinocerebellar ataxia type 28  (DOID:0050977)
  • 14 papers in RGD have been used to annotate Afg3l2


    • An association has been curated linking Afg3l2 and spinocerebellar ataxia type 28 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Svenstrup K, etal., Cerebellum. 2016 Feb 11.
  • The annotation has been inferred from sequence orthology with AFG3L2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Svenstrup K, etal., Cerebellum. 2016 Feb 11.
  • 2 RGD objects have been annotated to spinocerebellar ataxia type 28  (DOID:0050977)
  • 14 papers in RGD have been used to annotate Afg3l2
  • Curation Notes: DNA:missense mutation:exon:p.P688T (c.2062C>A) (human)


    • An association has been curated linking Afg3l2 and spinocerebellar ataxia type 28 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 AFG3L2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to spinocerebellar ataxia type 28  (DOID:0050977)
  • 14 papers in RGD have been used to annotate Afg3l2


    • An association has been curated linking Afg3l2 and spinocerebellar ataxia type 28 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Edener U, etal., Eur J Hum Genet. 2010 Aug;18(8):965-8. doi: 10.1038/ejhg.2010.40. Epub 2010 Mar 31.
  • The annotation has been inferred from sequence orthology with AFG3L2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Edener U, etal., Eur J Hum Genet. 2010 Aug;18(8):965-8. doi: 10.1038/ejhg.2010.40. Epub 2010 Mar 31.
  • 2 RGD objects have been annotated to spinocerebellar ataxia type 28  (DOID:0050977)
  • 14 papers in RGD have been used to annotate Afg3l2
  • Curation Notes: DNA:missense mutation:exon:p.E700K (c.2098G>A) (human)


    • An association has been curated linking Afg3l2 and spinocerebellar ataxia type 28 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Smets K, etal., Neurology. 2014 Jun 10;82(23):2092-100. doi: 10.1212/WNL.0000000000000491. Epub 2014 May 9.
  • The annotation has been inferred from sequence orthology with AFG3L2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Smets K, etal., Neurology. 2014 Jun 10;82(23):2092-100. doi: 10.1212/WNL.0000000000000491. Epub 2014 May 9.
  • 2 RGD objects have been annotated to spinocerebellar ataxia type 28  (DOID:0050977)
  • 14 papers in RGD have been used to annotate Afg3l2
  • Curation Notes: DNA:deletion


    • An association has been curated linking Afg3l2 and spinocerebellar ataxia type 28 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
  • 2 RGD objects have been annotated to spinocerebellar ataxia type 28  (DOID:0050977)
  • 14 papers in RGD have been used to annotate Afg3l2
  • Curation Notes: OMIM:610246


    • An association has been curated linking Afg3l2 and spinocerebellar ataxia type 28 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 AFG3L2 (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to spinocerebellar ataxia type 28  (DOID:0050977)
  • 14 papers in RGD have been used to annotate Afg3l2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Afg3l2 and spinocerebellar ataxia type 28 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 AFG3L2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to spinocerebellar ataxia type 28  (DOID:0050977)
  • 14 papers in RGD have been used to annotate Afg3l2
  • Curation Notes: ClinVar Annotator: match by term: Spinocerebellar ataxia type 28
  • Original References(s): PMID:16251216 PMID:20208537 PMID:20354562 PMID:20725928 PMID:23777634 PMID:25401298 PMID:25741868 PMID:25741869 PMID:26454370 PMID:26467025 PMID:26633542 PMID:27165006 PMID:28444220 PMID:28492532 PMID:29053796 PMID:30773800 PMID:31111429 PMID:31327635 PMID:33956305 PMID:34333379


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