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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Slc25a46 and pontocerebellar hypoplasia type 1E 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 SLC25A46 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to pontocerebellar hypoplasia type 1E  (DOID:0112330)
  • 3 papers in RGD have been used to annotate Slc25a46


    • An association has been curated linking Slc25a46 and pontocerebellar hypoplasia type 1E 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 SLC25A46 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to pontocerebellar hypoplasia type 1E  (DOID:0112330)
  • 3 papers in RGD have been used to annotate Slc25a46
  • Curation Notes: ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1E
  • Original References(s): PMID:16199547 PMID:25741868 PMID:26168012 PMID:26951855 PMID:27390132 PMID:27543974 PMID:28369803 PMID:28492532 PMID:28558379 PMID:28637197 PMID:28653766 PMID:33816684 PMID:8147499


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