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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Slc4a1 and hereditary spherocytosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Jarolim P, etal., J Clin Invest. 1994 Jan;93(1):121-30.
  • The annotation has been inferred from sequence orthology with SLC4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Jarolim P, etal., J Clin Invest. 1994 Jan;93(1):121-30.
  • 11 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 44 papers in RGD have been used to annotate Slc4a1
  • Curation Notes: DNA:duplication:cds: (human)


  • An association has been curated linking Slc4a1 and hereditary spherocytosis 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 SLC4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 44 papers in RGD have been used to annotate Slc4a1
  • Curation Notes: ClinVar Annotator: match by term: Spherocytosis, Dominant


  • An association has been curated linking Slc4a1 and hereditary spherocytosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Alloisio N, etal., Blood. 1997 Jul 1;90(1):414-20.
  • The annotation has been inferred from sequence orthology with SLC4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Alloisio N, etal., Blood. 1997 Jul 1;90(1):414-20.
  • 11 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 44 papers in RGD have been used to annotate Slc4a1
  • Curation Notes: DNA:missense mutations:cds:p.E40K, p.P147S, p.V488M (human)


  • An association has been curated linking Slc4a1 and hereditary spherocytosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Lima PR, etal., Blood. 1997 Oct 1;90(7):2810-8.
  • The annotation has been inferred from sequence orthology with SLC4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Lima PR, etal., Blood. 1997 Oct 1;90(7):2810-8.
  • 11 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 44 papers in RGD have been used to annotate Slc4a1
  • Curation Notes: mRNA:splicing error:intron:IVS8+1G>T (human)


  • An association has been curated linking Slc4a1 and hereditary spherocytosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Maillet P, etal., Br J Haematol. 1995 Dec;91(4):804-10.
  • The annotation has been inferred from sequence orthology with SLC4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 additional annotations were made from Maillet P, etal., Br J Haematol. 1995 Dec;91(4):804-10.
  • 11 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 44 papers in RGD have been used to annotate Slc4a1
  • Curation Notes: DNA:missense mutation:cds:p.G771D (human)


  • An association has been curated linking Slc4a1 and hereditary spherocytosis 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 SLC4A1 (Homo sapiens) [(EXP) inferred from experiment]
  • 11 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 44 papers in RGD have been used to annotate Slc4a1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:1378323


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