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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PCYT1A and spondylometaphyseal dysplasia with cone-rod dystrophy 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 PCYT1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to spondylometaphyseal dysplasia with cone-rod dystrophy  (DOID:0112300)
  • 0 papers in RGD have been used to annotate PCYT1A


    • An association has been curated linking PCYT1A and spondylometaphyseal dysplasia with cone-rod dystrophy 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 PCYT1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to spondylometaphyseal dysplasia with cone-rod dystrophy  (DOID:0112300)
  • 0 papers in RGD have been used to annotate PCYT1A
  • Curation Notes: ClinVar Annotator: match by term: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
  • Original References(s): PMID:15326626 PMID:21412974 PMID:24387990 PMID:24387991 PMID:25741868 PMID:28272537 PMID:28492532 PMID:30559292


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