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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Phgdh and Neu-Laxova syndrome 1 in Mus musculus.        

  • 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 PHGDH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Neu-Laxova syndrome 1  (DOID:0080076)
  • 11 papers in RGD have been used to annotate Phgdh


    • An association has been curated linking Phgdh and Neu-Laxova syndrome 1 in Mus musculus.        

  • 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 PHGDH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Neu-Laxova syndrome 1  (DOID:0080076)
  • 11 papers in RGD have been used to annotate Phgdh
  • Curation Notes: ClinVar Annotator: match by term: Neu-Laxova syndrome 1
  • Original References(s): PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 PMID:16199547 PMID:17576681 PMID:19235232 PMID:20196394 PMID:21113737 PMID:22393170 PMID:24836451 PMID:25152457 PMID:25741868 PMID:25741916 PMID:26467025 PMID:26610677 PMID:26960553 PMID:28135894 PMID:28252636 PMID:28492532 PMID:29018476 PMID:29286531 PMID:29703746 PMID:30214071 PMID:30348640 PMID:30838783 PMID:32404165 PMID:33758422 PMID:9536098


    • An association has been curated linking Phgdh and Neu-Laxova syndrome 1 in Mus musculus.        

  • 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 PHGDH (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to Neu-Laxova syndrome 1  (DOID:0080076)
  • 11 papers in RGD have been used to annotate Phgdh
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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