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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking SLC52A3 and Brown-Vialetto-Van Laere syndrome in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 61 RGD objects have been annotated to Brown-Vialetto-Van Laere syndrome  (DOID:0050694)
  • 4 papers in RGD have been used to annotate SLC52A3
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking SLC52A3 and Brown-Vialetto-Van Laere syndrome 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:11546791|RGD:13497453|RGD:13625601|RGD:14703451 (Homo sapiens) & RGD:11546791|RGD:13497453|RGD:13625601|RGD:14703451 (Homo sapiens) & RGD:11546791|RGD:13497453|RGD:13625601|RGD:14703451 (Homo sapiens) & RGD:11546791|RGD:13497453|RGD:13625601|RGD:14703451 (Homo sapiens)
  • 61 RGD objects have been annotated to Brown-Vialetto-Van Laere syndrome  (DOID:0050694)
  • 4 papers in RGD have been used to annotate SLC52A3
  • Curation Notes: ClinVar Annotator: match by term: Pontobulbar palsy and neurosensory deafness
  • Original References(s): PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking SLC52A3 and Brown-Vialetto-Van Laere syndrome 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:127325112|RGD:13499572|RGD:13501112|RGD:13625604|RGD:15134398|RGD:155941985|RGD:38469072 (Homo sapiens) & RGD:127325112|RGD:13499572|RGD:13501112|RGD:13625604|RGD:15134398|RGD:155941985|RGD:38469072 (Homo sapiens) & RGD:127325112|RGD:13499572|RGD:13501112|RGD:13625604|RGD:15134398|RGD:155941985|RGD:38469072 (Homo sapiens) & RGD:127325112|RGD:13499572|RGD:13501112|RGD:13625604|RGD:15134398|RGD:155941985|RGD:38469072 (Homo sapiens) & RGD:127325112|RGD:13499572|RGD:13501112|RGD:13625604|RGD:15134398|RGD:155941985|RGD:38469072 (Homo sapiens) & RGD:127325112|RGD:13499572|RGD:13501112|RGD:13625604|RGD:15134398|RGD:155941985|RGD:38469072 (Homo sapiens) & RGD:127325112|RGD:13499572|RGD:13501112|RGD:13625604|RGD:15134398|RGD:155941985|RGD:38469072 (Homo sapiens)
  • 61 RGD objects have been annotated to Brown-Vialetto-Van Laere syndrome  (DOID:0050694)
  • 4 papers in RGD have been used to annotate SLC52A3
  • Curation Notes: ClinVar Annotator: match by term: Pontobulbar palsy and neurosensory deafness
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking SLC52A3 and Brown-Vialetto-Van Laere syndrome 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:10407800 (Homo sapiens)
  • 61 RGD objects have been annotated to Brown-Vialetto-Van Laere syndrome  (DOID:0050694)
  • 4 papers in RGD have been used to annotate SLC52A3
  • Curation Notes: ClinVar Annotator: match by term: Pontobulbar palsy and neurosensory deafness
  • Original References(s): PMID:22718020 PMID:24033266 PMID:25741868 PMID:26072523 PMID:27702554 PMID:28492532 PMID:29501408 PMID:33189404 PMID:33325104 PMID:34426522 PMID:34662687


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