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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PURA and autosomal dominant intellectual developmental disorder 31 in Pan paniscus.        

  • 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 PURA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 81 RGD objects have been annotated to autosomal dominant intellectual developmental disorder 31  (DOID:0070061)
  • 0 papers in RGD have been used to annotate PURA


    • An association has been curated linking PURA and autosomal dominant intellectual developmental disorder 31 in Pan paniscus.        

  • 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 PURA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 81 RGD objects have been annotated to autosomal dominant intellectual developmental disorder 31  (DOID:0070061)
  • 0 papers in RGD have been used to annotate PURA
  • Curation Notes: ClinVar Annotator: match by term: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES | ClinVar Annotator: match by term: PURA Syndrome | ClinVar Annotator: match by term: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
  • Original References(s): PMID:12818205 PMID:19846792 PMID:23950017 PMID:24033266 PMID:25342064 PMID:25439098 PMID:25741868 PMID:25741869 PMID:26744780 PMID:27148565 PMID:28448108 PMID:28492532 PMID:28600779 PMID:29097605 PMID:29150892 PMID:29619234 PMID:30919572 PMID:32089526 PMID:32165824 PMID:32238909 PMID:32337850 PMID:32581362 PMID:32860008 PMID:33726816 PMID:34008892 PMID:35118825 PMID:36376392 PMID:9461080


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