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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking GATD3 and homocystinuria in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:151837208 (Homo sapiens)
  • 112 RGD objects have been annotated to homocystinuria  (DOID:9263)
  • 1 papers in RGD have been used to annotate GATD3
  • Curation Notes: ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
  • Original References(s): PMID:10338090 PMID:12124992 PMID:28492532


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