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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Pigl and CHIME syndrome 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 PIGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CHIME syndrome  (DOID:0112152)
  • 12 papers in RGD have been used to annotate Pigl


    • An association has been curated linking Pigl and CHIME syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ng BG, etal., Am J Hum Genet. 2012 Apr 6;90(4):685-8. doi: 10.1016/j.ajhg.2012.02.010. Epub 2012 Mar 22.
  • The annotation has been inferred from sequence orthology with PIGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Ng BG, etal., Am J Hum Genet. 2012 Apr 6;90(4):685-8. doi: 10.1016/j.ajhg.2012.02.010. Epub 2012 Mar 22.
  • 1 RGD objects have been annotated to CHIME syndrome  (DOID:0112152)
  • 12 papers in RGD have been used to annotate Pigl
  • Curation Notes: DNA:missense mutation:CDS:c.500T>C (p.L167P) (human)


    • An association has been curated linking Pigl and CHIME syndrome 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 PIGL (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to CHIME syndrome  (DOID:0112152)
  • 12 papers in RGD have been used to annotate Pigl
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Pigl and CHIME syndrome 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 PIGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CHIME syndrome  (DOID:0112152)
  • 12 papers in RGD have been used to annotate Pigl
  • Curation Notes: ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5 | ClinVar Annotator: match by term: Zunich neuroectodermal syndrome
  • Original References(s): PMID:16199547 PMID:18414213 PMID:22444671 PMID:23561846 PMID:24784135 PMID:25250048 PMID:25741868 PMID:28327575 PMID:28371479 PMID:28492532 PMID:29473937 PMID:30023290 PMID:3041916 PMID:31535386 PMID:7666399 PMID:8893234


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