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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SLC19A1 and fundus dystrophy 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:13434986 (Homo sapiens)
  • 1015 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 12 papers in RGD have been used to annotate SLC19A1
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:28041643


    • An association has been curated linking SLC19A1 and fundus dystrophy 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:8573214 (Homo sapiens)
  • 1015 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 12 papers in RGD have been used to annotate SLC19A1
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23667181 PMID:25456301 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29977801 PMID:34828430


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