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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking FAH and tyrosinemia in Chlorocebus sabaeus.        

  • 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 FAH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to tyrosinemia  (DOID:9275)
  • 0 papers in RGD have been used to annotate FAH
  • Curation Notes: ClinVar Annotator: match by term: FAH deficiency | ClinVar Annotator: match by term: Fumarylacetoacetase deficiency | ClinVar Annotator: match by term: Hypertyrosinemia | ClinVar Annotator: match by term: Tyrosine aminotransferase deficiency | ClinVar Annotator: match by term: Tyrosinemia
  • Original References(s): PMID:11278491 PMID:11476670 PMID:11754109 PMID:12203990 PMID:14691918 PMID:15187789 PMID:15638932 PMID:16521249 PMID:17576681 PMID:20301688 PMID:21752152 PMID:21764616 PMID:22554029 PMID:22802474 PMID:22975760 PMID:23193487 PMID:23348723 PMID:23430822 PMID:23430836 PMID:23895425 PMID:24016420 PMID:24033266 PMID:24555242 PMID:25081276 PMID:25087612 PMID:25256450 PMID:25525159 PMID:25681080 PMID:25741868 PMID:26565546 PMID:27814443 PMID:28468868 PMID:28492532 PMID:28755182 PMID:28755192 PMID:29326876 PMID:29497141 PMID:30414057 PMID:30581635 PMID:306090409 PMID:31300554 PMID:31568711 PMID:31574857 PMID:31998365 PMID:33083013 PMID:35800472 PMID:7757089 PMID:7929843 PMID:7942842 PMID:7977370 PMID:8028615 PMID:8076937 PMID:8318997 PMID:8557261 PMID:8723690 PMID:8821854 PMID:8829657 PMID:9101289 PMID:9536098 PMID:9633815 PMID:9705236


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