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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Dmac2l and L-2-hydroxyglutaric aciduria in Chinchilla lanigera.        

  • 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 DMAC2L (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to L-2-hydroxyglutaric aciduria  (DOID:0050574)
  • 1 papers in RGD have been used to annotate Dmac2l
  • Curation Notes: ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria | ClinVar Annotator: match by term: L2HGDH-related condition
  • Original References(s): PMID:17576681 PMID:18414213 PMID:25741868 PMID:25741905 PMID:26467025 PMID:28492532 PMID:9536098


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