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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Cisd2 and Wolfram syndrome 2 in Mus musculus.        

  • The association was inferred from mutant phenotype (IMP)
    		•  
  • The annotation was made from Chen YF, etal., Genes Dev. 2009 May 15;23(10):1183-94. doi: 10.1101/gad.1779509.
  • 2 additional annotations were made from Chen YF, etal., Genes Dev. 2009 May 15;23(10):1183-94. doi: 10.1101/gad.1779509.
  • 4 RGD objects have been annotated to Wolfram syndrome 2  (DOID:0110630)
  • 8 papers in RGD have been used to annotate Cisd2


    • An association has been curated linking Cisd2 and Wolfram syndrome 2 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 CISD2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Wolfram syndrome 2  (DOID:0110630)
  • 8 papers in RGD have been used to annotate Cisd2


    • An association has been curated linking Cisd2 and Wolfram syndrome 2 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Amr S, etal., Am J Hum Genet. 2007 Oct;81(4):673-83. Epub 2007 Aug 20.
  • The annotation has been inferred from sequence orthology with CISD2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Amr S, etal., Am J Hum Genet. 2007 Oct;81(4):673-83. Epub 2007 Aug 20.
  • 4 RGD objects have been annotated to Wolfram syndrome 2  (DOID:0110630)
  • 8 papers in RGD have been used to annotate Cisd2
  • Curation Notes: DNA:missense mutation: :109G>C (p.E37Q) (human)


    • An association has been curated linking Cisd2 and Wolfram syndrome 2 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 CISD2 (Homo sapiens) [(EXP) inferred from experiment]
  • 4 RGD objects have been annotated to Wolfram syndrome 2  (DOID:0110630)
  • 8 papers in RGD have been used to annotate Cisd2
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:24705017


    • An association has been curated linking Cisd2 and Wolfram syndrome 2 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 CISD2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Wolfram syndrome 2  (DOID:0110630)
  • 8 papers in RGD have been used to annotate Cisd2
  • Curation Notes: ClinVar Annotator: match by term: CISD2-related condition | ClinVar Annotator: match by term: Wolfram syndrome 2
  • Original References(s): PMID:10739754 PMID:17576681 PMID:17846994 PMID:25056293 PMID:25371195 PMID:25741868 PMID:28492532 PMID:29237418 PMID:9536098


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