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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ndufaf2 and Cockayne syndrome A in Heterocephalus glaber.        

  • 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 NDUFAF2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Cockayne syndrome A  (DOID:0080907)
  • 0 papers in RGD have been used to annotate Ndufaf2
  • Curation Notes: ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome type 1
  • Original References(s): PMID:14661080 PMID:15744458 PMID:18180188 PMID:19329487 PMID:19384974 PMID:19894250 PMID:20571988 PMID:21681106 PMID:21924235 PMID:22099533 PMID:24033266 PMID:25333069 PMID:25741868 PMID:27597947 PMID:28492532 PMID:29572252


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