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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV211619 and encephalopathy due to defective mitochondrial and peroxisomal fission 1 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
  • 4 RGD objects have been annotated to encephalopathy due to defective mitochondrial and peroxisomal fission 1  (DOID:0070347)
  • 0 papers in RGD have been used to annotate CV211619
  • Curation Notes: ClinVar Annotator: match by term: Encephalopathy due to defective mitochondrial and peroxisomal fission 1
  • Original References(s): PMID:20696759 PMID:25741868 PMID:26604000 PMID:27145208 PMID:28492532 PMID:29529134 PMID:30939602


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