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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Galt and classic galactosemia 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 GALT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to classic galactosemia  (DOID:0111459)
  • 16 papers in CRRD have been used to annotate Galt


  • An association has been curated linking Galt and classic galactosemia 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 GALT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to classic galactosemia  (DOID:0111459)
  • 16 papers in CRRD have been used to annotate Galt
  • Curation Notes: ClinVar Annotator: match by term: Galactosemia, classic
  • Original References(s): PMID:2011574


  • An association has been curated linking Galt and classic galactosemia 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 GALT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to classic galactosemia  (DOID:0111459)
  • 16 papers in CRRD have been used to annotate Galt
  • Curation Notes: ClinVar Annotator: match by term: Galactose-1-phosphate uridyltransferase deficiency
  • Original References(s): PMID:10424825, PMID:11152465, PMID:11261429, PMID:11286503, PMID:11479743, PMID:19224951, PMID:19581158, PMID:2011574, PMID:20301691, PMID:21228398, PMID:22963887, PMID:24718839, PMID:25087612, PMID:25592817, PMID:25614870, PMID:25741868, PMID:4759900, PMID:7550229, PMID:8198125, PMID:8892021, PMID:9012409, PMID:9222760, PMID:9450900


  • An association has been curated linking Galt and classic galactosemia 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 GALT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to classic galactosemia  (DOID:0111459)
  • 16 papers in CRRD have been used to annotate Galt
  • Curation Notes: ClinVar Annotator: match by term: Galactose-1-phosphate uridyltransferase deficiency
  • Original References(s): PMID:10424825, PMID:10649501, PMID:11261429, PMID:11286503, PMID:11479743, PMID:11754113, PMID:19224951, PMID:25473725, PMID:28492532, PMID:29261178


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.