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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking LOC130002656 and primary coenzyme Q10 deficiency 7 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:14701855 (Homo sapiens)
  • 315 RGD objects have been annotated to primary coenzyme Q10 deficiency 7  (DOID:0070244)
  • 0 papers in RGD have been used to annotate LOC130002656
  • Curation Notes: ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • Original References(s): PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935


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