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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Pign and multiple congenital anomalies-hypotonia-seizures syndrome 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 PIGN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 33 RGD objects have been annotated to multiple congenital anomalies-hypotonia-seizures syndrome  (DOID:0080503)
  • 8 papers in RGD have been used to annotate Pign
  • Curation Notes: ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome
  • Original References(s): PMID:16199547 PMID:24033266 PMID:24253414 PMID:25741868 PMID:26364997 PMID:26394714 PMID:27038415 PMID:28492532 PMID:30293990 PMID:30609409


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