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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ncaph2 and mitochondrial complex IV deficiency nuclear type 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with NCAPH2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to mitochondrial complex IV deficiency nuclear type 2  (DOID:0080357)
  • 4 papers in RGD have been used to annotate Ncaph2
  • Curation Notes: ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 | ClinVar Annotator: match by term: SCO2-related condition
  • Original References(s): PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 PMID:15210538 PMID:16326995 PMID:16765077 PMID:18804471 PMID:18924171 PMID:19353847 PMID:19879173 PMID:20159436 PMID:20445193 PMID:23345593 PMID:23407777 PMID:23643385 PMID:23719228 PMID:24215330 PMID:25058219 PMID:25097374 PMID:25741868 PMID:25959673 PMID:26427993 PMID:27290639 PMID:27629047 PMID:28429146 PMID:28492532 PMID:28518168 PMID:28798025 PMID:29193756 PMID:29351582 PMID:30340907 PMID:30593977 PMID:31589614 PMID:31623504 PMID:31844624 PMID:31967322 PMID:32461654 PMID:32600061 PMID:32668698 PMID:33098801 PMID:33171185 PMID:34362006 PMID:34426522 PMID:34691145 PMID:34732400 PMID:34746378 PMID:35083221 PMID:35094435 PMID:36675121 PMID:36678915 PMID:39825153


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