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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking FANCI and mitochondrial DNA depletion syndrome 8A 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:10396621 (Homo sapiens)
  • 13 RGD objects have been annotated to mitochondrial DNA depletion syndrome 8A  (DOID:0080127)
  • 8 papers in RGD have been used to annotate FANCI
  • Curation Notes: ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
  • Original References(s): PMID:23524600 PMID:25741868 PMID:26467025 PMID:27987238 PMID:28492532


    • An association has been curated linking FANCI and mitochondrial DNA depletion syndrome 8A 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:8566899 (Homo sapiens)
  • 13 RGD objects have been annotated to mitochondrial DNA depletion syndrome 8A  (DOID:0080127)
  • 8 papers in RGD have been used to annotate FANCI
  • Curation Notes: ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
  • Original References(s): PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:28492532


    • An association has been curated linking FANCI and mitochondrial DNA depletion syndrome 8A 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:8566903 (Homo sapiens)
  • 13 RGD objects have been annotated to mitochondrial DNA depletion syndrome 8A  (DOID:0080127)
  • 8 papers in RGD have been used to annotate FANCI
  • Curation Notes: ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
  • Original References(s): PMID:18414213 PMID:22237560 PMID:25488682 PMID:25741868 PMID:26467025 PMID:28130605 PMID:28492532 PMID:30451971


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