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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Pmpca and autosomal recessive spinocerebellar ataxia 2 in Heterocephalus glaber.        

  • 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 PMPCA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 2  (DOID:0080061)
  • 0 papers in RGD have been used to annotate Pmpca


    • An association has been curated linking Pmpca and autosomal recessive spinocerebellar ataxia 2 in Heterocephalus glaber.        

  • 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 PMPCA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal recessive spinocerebellar ataxia 2  (DOID:0080061)
  • 0 papers in RGD have been used to annotate Pmpca
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 | ClinVar Annotator: match by term: CPD III
  • Original References(s): PMID:10528257 PMID:17576681 PMID:25741868 PMID:25808372 PMID:26657514 PMID:28492532 PMID:32369273 PMID:9536098


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