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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking LOC112552175 and nuclear type mitochondrial complex I deficiency 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
  • The annotation has been inferred by association of genotype and phenotype with RGD:8692180 (Homo sapiens)
  • 42 RGD objects have been annotated to nuclear type mitochondrial complex I deficiency 1  (DOID:0112074)
  • 0 papers in RGD have been used to annotate LOC112552175
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1
  • Original References(s): PMID:28492532


    • An association has been curated linking LOC112552175 and nuclear type mitochondrial complex I deficiency 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
  • The annotation has been inferred by association of genotype and phenotype with RGD:11620378|RGD:11628092|RGD:11630511|RGD:11631697|RGD:11632422|RGD:11650052|RGD:11651231|RGD:11658314|RGD:28879138 (Homo sapiens) & RGD:11620378|RGD:11628092|RGD:11630511|RGD:11631697|RGD:11632422|RGD:11650052|RGD:11651231|RGD:11658314|RGD:28879138 (Homo sapiens) & RGD:11620378|RGD:11628092|RGD:11630511|RGD:11631697|RGD:11632422|RGD:11650052|RGD:11651231|RGD:11658314|RGD:28879138 (Homo sapiens) & RGD:11620378|RGD:11628092|RGD:11630511|RGD:11631697|RGD:11632422|RGD:11650052|RGD:11651231|RGD:11658314|RGD:28879138 (Homo sapiens) & RGD:11620378|RGD:11628092|RGD:11630511|RGD:11631697|RGD:11632422|RGD:11650052|RGD:11651231|RGD:11658314|RGD:28879138 (Homo sapiens) & RGD:11620378|RGD:11628092|RGD:11630511|RGD:11631697|RGD:11632422|RGD:11650052|RGD:11651231|RGD:11658314|RGD:28879138 (Homo sapiens) & RGD:11620378|RGD:11628092|RGD:11630511|RGD:11631697|RGD:11632422|RGD:11650052|RGD:11651231|RGD:11658314|RGD:28879138 (Homo sapiens) & RGD:11620378|RGD:11628092|RGD:11630511|RGD:11631697|RGD:11632422|RGD:11650052|RGD:11651231|RGD:11658314|RGD:28879138 (Homo sapiens) & RGD:11620378|RGD:11628092|RGD:11630511|RGD:11631697|RGD:11632422|RGD:11650052|RGD:11651231|RGD:11658314|RGD:28879138 (Homo sapiens)
  • 42 RGD objects have been annotated to nuclear type mitochondrial complex I deficiency 1  (DOID:0112074)
  • 0 papers in RGD have been used to annotate LOC112552175
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1


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