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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SLC19A3 and biotin-responsive basal ganglia disease in Pan paniscus.        

  • 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 SLC19A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to biotin-responsive basal ganglia disease  (DOID:0050659)
  • 0 papers in RGD have been used to annotate SLC19A3


    • An association has been curated linking SLC19A3 and biotin-responsive basal ganglia disease in Pan paniscus.        

  • 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 SLC19A3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to biotin-responsive basal ganglia disease  (DOID:0050659)
  • 0 papers in RGD have been used to annotate SLC19A3
  • Curation Notes: ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease | ClinVar Annotator: match by term: Biotin-thiamine-responsive basal ganglia disease | ClinVar Annotator: match by term: thiamine-responsive encephalopathy
  • Original References(s): PMID:15871139 PMID:16199547 PMID:16790503 PMID:17576681 PMID:19387023 PMID:20065143 PMID:22777947 PMID:23423671 PMID:23482991 PMID:23589815 PMID:23742248 PMID:24166474 PMID:24372704 PMID:24667528 PMID:24957181 PMID:25741868 PMID:26077850 PMID:26443248 PMID:26467025 PMID:26657515 PMID:26863430 PMID:26938784 PMID:26975589 PMID:27290639 PMID:27749535 PMID:27841215 PMID:27896110 PMID:27905264 PMID:28492532 PMID:28518168 PMID:28677371 PMID:28696212 PMID:28832562 PMID:28856750 PMID:29101630 PMID:29236641 PMID:29287834 PMID:29453417 PMID:31061755 PMID:31130284 PMID:32034746 PMID:32461654 PMID:32600842 PMID:32679198 PMID:34276785 PMID:34992632 PMID:38279250 PMID:9536098


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