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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Qdpr and BH4-deficient hyperphenylalaninemia C 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 QDPR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to BH4-deficient hyperphenylalaninemia C  (DOID:0081130)
  • 33 papers in RGD have been used to annotate Qdpr


    • An association has been curated linking Qdpr and BH4-deficient hyperphenylalaninemia C 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 QDPR (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to BH4-deficient hyperphenylalaninemia C  (DOID:0081130)
  • 33 papers in RGD have been used to annotate Qdpr
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Qdpr and BH4-deficient hyperphenylalaninemia C 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 QDPR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to BH4-deficient hyperphenylalaninemia C  (DOID:0081130)
  • 33 papers in RGD have been used to annotate Qdpr
  • Curation Notes: ClinVar Annotator: match by term: Dihydropteridine reductase deficiency | ClinVar Annotator: match by term: Quinoid dihydropteridine reductase deficiency
  • Original References(s): PMID:10408783 PMID:11153907 PMID:11694255 PMID:1283784 PMID:16199547 PMID:17188538 PMID:17576681 PMID:18425437 PMID:19099731 PMID:2116088 PMID:21890392 PMID:23138986 PMID:24033266 PMID:25124972 PMID:25155776 PMID:25741868 PMID:26006720 PMID:26589311 PMID:27243974 PMID:27246466 PMID:28492532 PMID:29499199 PMID:30109838 PMID:30221392 PMID:32905092 PMID:33822819 PMID:33903016 PMID:33977029 PMID:34214291 PMID:34485013 PMID:34997870 PMID:36382472 PMID:7627180 PMID:8326489 PMID:8518287 PMID:9341885 PMID:9536098 PMID:9744478


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