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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Slc19a2 and thiamine-responsive megaloblastic anemia syndrome in Rattus norvegicus.        

  • 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 SLC19A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to thiamine-responsive megaloblastic anemia syndrome  (DOID:0090117)
  • 11 papers in RGD have been used to annotate Slc19a2


    • An association has been curated linking Slc19a2 and thiamine-responsive megaloblastic anemia syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SLC19A2 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to thiamine-responsive megaloblastic anemia syndrome  (DOID:0090117)
  • 11 papers in RGD have been used to annotate Slc19a2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Slc19a2 and thiamine-responsive megaloblastic anemia syndrome in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Slc19a2 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to thiamine-responsive megaloblastic anemia syndrome  (DOID:0090117)
  • 11 papers in RGD have been used to annotate Slc19a2
  • Curation Notes: OMIM:249270


    • An association has been curated linking Slc19a2 and thiamine-responsive megaloblastic anemia syndrome in Rattus norvegicus.        

  • 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 SLC19A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to thiamine-responsive megaloblastic anemia syndrome  (DOID:0090117)
  • 11 papers in RGD have been used to annotate Slc19a2
  • Curation Notes: ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia
  • Original References(s): PMID:10391221 PMID:10391222 PMID:10391223 PMID:10874303 PMID:10978358 PMID:12065289 PMID:12435857 PMID:14994241 PMID:16199547 PMID:17132746 PMID:17331069 PMID:17463047 PMID:18414213 PMID:19643445 PMID:23638917 PMID:24355766 PMID:25741868 PMID:25741916 PMID:26467025 PMID:28004468 PMID:28492532 PMID:29450569 PMID:33409956 PMID:33649974 PMID:33816400 PMID:9399900 PMID:9856490


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