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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Pts and BH4-deficient hyperphenylalaninemia A 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 PTS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 28 RGD objects have been annotated to BH4-deficient hyperphenylalaninemia A  (DOID:0090106)
  • 16 papers in RGD have been used to annotate Pts


    • An association has been curated linking Pts and BH4-deficient hyperphenylalaninemia A 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 PTS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 28 RGD objects have been annotated to BH4-deficient hyperphenylalaninemia A  (DOID:0090106)
  • 16 papers in RGD have been used to annotate Pts
  • Curation Notes: ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar Annotator: match by term: PTS Deficiency
  • Original References(s): PMID:10089284 PMID:10220141 PMID:10319579 PMID:10585341 PMID:10874306 PMID:11388593 PMID:11438997 PMID:11694255 PMID:11916314 PMID:16199547 PMID:16601879 PMID:16850690 PMID:16917893 PMID:17001642 PMID:17160954 PMID:17576681 PMID:18060820 PMID:18505119 PMID:19280650 PMID:19350512 PMID:19823873 PMID:19830588 PMID:20059486 PMID:21542064 PMID:21933604 PMID:22237589 PMID:23138986 PMID:23942198 PMID:25087612 PMID:25304915 PMID:25418970 PMID:25456745 PMID:25525159 PMID:25741868 PMID:25741913 PMID:25741915 PMID:25758715 PMID:26830550 PMID:27243974 PMID:27246466 PMID:27629047 PMID:28057123 PMID:28378820 PMID:28492532 PMID:28915855 PMID:29499199 PMID:29577258 PMID:29685341 PMID:30001213 PMID:30109838 PMID:30626930 PMID:30853107 PMID:30926181 PMID:31332730 PMID:32651154 PMID:32905092 PMID:3297709 PMID:33234470 PMID:33822819 PMID:34597372 PMID:35140743 PMID:36313470 PMID:7493990 PMID:7563095 PMID:7698774 PMID:8178819 PMID:8707300 PMID:8841415 PMID:9159737 PMID:9222757 PMID:9450907 PMID:9536098


    • An association has been curated linking Pts and BH4-deficient hyperphenylalaninemia A in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Pts (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 28 RGD objects have been annotated to BH4-deficient hyperphenylalaninemia A  (DOID:0090106)
  • 16 papers in RGD have been used to annotate Pts
  • Curation Notes: OMIM:261640


    • An association has been curated linking Pts and BH4-deficient hyperphenylalaninemia A 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 PTS (Homo sapiens) [(EXP) inferred from experiment]
  • 28 RGD objects have been annotated to BH4-deficient hyperphenylalaninemia A  (DOID:0090106)
  • 16 papers in RGD have been used to annotate Pts
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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