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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking CHMP1A and pontocerebellar hypoplasia type 8 in Sus scrofa.        

  • 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 CHMP1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to pontocerebellar hypoplasia type 8  (DOID:0060277)
  • 0 papers in RGD have been used to annotate CHMP1A


    • An association has been curated linking CHMP1A and pontocerebellar hypoplasia type 8 in Sus scrofa.        

  • 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 CHMP1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to pontocerebellar hypoplasia type 8  (DOID:0060277)
  • 0 papers in RGD have been used to annotate CHMP1A
  • Curation Notes: ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8
  • Original References(s): PMID:18414213 PMID:23023333 PMID:25741868 PMID:28492532


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