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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Cpt2 and Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with CPT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  (DOID:9001501)
  • 24 papers in RGD have been used to annotate Cpt2


    • An association has been curated linking Cpt2 and Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with CPT2 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  (DOID:9001501)
  • 24 papers in RGD have been used to annotate Cpt2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Cpt2 and Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 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 CPT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  (DOID:9001501)
  • 24 papers in RGD have been used to annotate Cpt2
  • Curation Notes: ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, NEONATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal
  • Original References(s): PMID:10090476 PMID:10398215 PMID:10607472 PMID:10734268 PMID:10862092 PMID:10873395 PMID:11257506 PMID:11477613 PMID:11855939 PMID:11994355 PMID:12362414 PMID:12410208 PMID:12560872 PMID:12673791 PMID:12707442 PMID:14605500 PMID:14615409 PMID:1528846 PMID:15363638 PMID:15622536 PMID:15642848 PMID:15754283 PMID:15776096 PMID:15811315 PMID:16168441 PMID:16615913 PMID:16781677 PMID:16996287 PMID:17372854 PMID:17651973 PMID:17709715 PMID:17936304 PMID:18306170 PMID:18363739 PMID:18550408 PMID:18577113 PMID:18645163 PMID:18925671 PMID:19762733 PMID:20301431 PMID:20810031 PMID:20830526 PMID:20934285 PMID:21227726 PMID:21697855 PMID:21709843 PMID:21913903 PMID:22494076 PMID:22652984 PMID:22854105 PMID:22899091 PMID:22975760 PMID:23184072 PMID:23322164 PMID:23700290 PMID:23757202 PMID:23911907 PMID:24033266 PMID:24398345 PMID:24503134 PMID:24517888 PMID:24563797 PMID:24602495 PMID:25326635 PMID:25604974 PMID:25741868 PMID:25827434 PMID:25919294 PMID:26467025 PMID:2647738 PMID:26477380 PMID:27067077 PMID:27123472 PMID:27525900 PMID:27578510 PMID:2762996 PMID:27629963 PMID:27974123 PMID:28492532 PMID:28516040 PMID:28600779 PMID:28779239 PMID:28871440 PMID:29478820 PMID:29552494 PMID:29744303 PMID:30094188 PMID:30149802 PMID:30455135 PMID:30609409 PMID:30957255 PMID:31372341 PMID:31501239 PMID:32295037 PMID:32411386 PMID:32528171 PMID:33123633 PMID:33532864 PMID:34063237 PMID:736528 PMID:7711730 PMID:835844 PMID:8358442 PMID:8651281 PMID:8682496 PMID:8786066 PMID:9309694 PMID:9562964 PMID:9600456 PMID:9758712


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