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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking CPT1A and carnitine palmitoyltransferase I deficiency in Sus scrofa.        

  • 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 CPT1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to carnitine palmitoyltransferase I deficiency  (DOID:0090129)
  • 0 papers in RGD have been used to annotate CPT1A


  • An association has been curated linking CPT1A and carnitine palmitoyltransferase I deficiency in Sus scrofa.        

  • 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 CPT1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to carnitine palmitoyltransferase I deficiency  (DOID:0090129)
  • 0 papers in RGD have been used to annotate CPT1A
  • Curation Notes: ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency
  • Original References(s): PMID:11350182 PMID:11350183 PMID:11441142 PMID:12111367 PMID:12189492 PMID:12351641 PMID:14517221 PMID:15110323 PMID:16169268 PMID:16199547 PMID:16958601 PMID:17576681 PMID:19181627 PMID:19217814 PMID:19345525 PMID:20301700 PMID:20696606 PMID:21253826 PMID:21763168 PMID:21962599 PMID:23090344 PMID:23430491 PMID:23430868 PMID:23430932 PMID:23700290 PMID:24033266 PMID:24847810 PMID:25449608 PMID:25640679 PMID:25741868 PMID:26010953 PMID:26820065 PMID:27066452 PMID:27341449 PMID:28125087 PMID:28468868 PMID:28492532 PMID:29519241 PMID:30101502 PMID:31319225 PMID:32088118 PMID:32561900 PMID:32781271 PMID:33845545 PMID:34131458 PMID:34869124 PMID:35360862 PMID:9048718 PMID:9536098 PMID:9691089


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