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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking SLC2A1 and Microcephaly in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Levy B, etal., Mol Genet Metab. 2010 Jun;100(2):129-35. doi: 10.1016/j.ymgme.2010.03.007. Epub 2010 Mar 17.
  • 6 additional annotations were made from Levy B, etal., Mol Genet Metab. 2010 Jun;100(2):129-35. doi: 10.1016/j.ymgme.2010.03.007. Epub 2010 Mar 17.
  • 1424 RGD objects have been annotated to Microcephaly  (HP:0000252)
  • 45 papers in RGD have been used to annotate SLC2A1
  • Curation Notes: DNA:deletions: :multiple


    • An association has been curated linking SLC2A1 and Microcephaly 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:10396885 (Homo sapiens)
  • 1424 RGD objects have been annotated to Microcephaly  (HP:0000252)
  • 45 papers in RGD have been used to annotate SLC2A1
  • Curation Notes: ClinVar Annotator: match by term: Microcephaly
  • Original References(s): PMID:10980529 PMID:20129935 PMID:21832227 PMID:25326635 PMID:25741868 PMID:26193382 PMID:26216499 PMID:28492532


    • An association has been curated linking SLC2A1 and Microcephaly in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 1424 RGD objects have been annotated to Microcephaly  (HP:0000252)
  • 45 papers in RGD have been used to annotate SLC2A1
  • Original References(s): ORPHA:1942


    • An association has been curated linking SLC2A1 and Microcephaly in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 1424 RGD objects have been annotated to Microcephaly  (HP:0000252)
  • 45 papers in RGD have been used to annotate SLC2A1
  • Original References(s): ORPHA:168577


    • An association has been curated linking SLC2A1 and Microcephaly in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 1424 RGD objects have been annotated to Microcephaly  (HP:0000252)
  • 45 papers in RGD have been used to annotate SLC2A1
  • Original References(s): OMIM:608885


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