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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking MT-ND3 and mitochondrial 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:8555047 (Homo sapiens)
  • 1 RGD objects have been annotated to mitochondrial type mitochondrial complex I deficiency 1  (DOID:0112101)
  • 11 papers in RGD have been used to annotate MT-ND3
  • Curation Notes: ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
  • Original References(s): PMID:11456298 PMID:14705112 PMID:17535832


    • An association has been curated linking MT-ND3 and mitochondrial 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:8555049 (Homo sapiens)
  • 1 RGD objects have been annotated to mitochondrial type mitochondrial complex I deficiency 1  (DOID:0112101)
  • 11 papers in RGD have been used to annotate MT-ND3
  • Curation Notes: ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
  • Original References(s): PMID:14684687 PMID:14705112 PMID:14764913 PMID:15372108 PMID:25741868


    • An association has been curated linking MT-ND3 and mitochondrial 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:8555050 (Homo sapiens)
  • 1 RGD objects have been annotated to mitochondrial type mitochondrial complex I deficiency 1  (DOID:0112101)
  • 11 papers in RGD have been used to annotate MT-ND3
  • Curation Notes: ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
  • Original References(s): PMID:17152068 PMID:17413873 PMID:19458970 PMID:25741868


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