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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking SLC4A1 and hereditary spherocytosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Jarolim P, etal., J Clin Invest. 1994 Jan;93(1):121-30.
  • 2 additional annotations were made from Jarolim P, etal., J Clin Invest. 1994 Jan;93(1):121-30.
  • 17 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 27 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 Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Alloisio N, etal., Blood. 1997 Jul 1;90(1):414-20.
  • 4 additional annotations were made from Alloisio N, etal., Blood. 1997 Jul 1;90(1):414-20.
  • 17 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 27 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 Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Lima PR, etal., Blood. 1997 Oct 1;90(7):2810-8.
  • 2 additional annotations were made from Lima PR, etal., Blood. 1997 Oct 1;90(7):2810-8.
  • 17 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 27 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 Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Maillet P, etal., Br J Haematol. 1995 Dec;91(4):804-10.
  • 7 additional annotations were made from Maillet P, etal., Br J Haematol. 1995 Dec;91(4):804-10.
  • 17 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 27 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 Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 17 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 27 papers in RGD have been used to annotate SLC4A1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:1378323


    • An association has been curated linking SLC4A1 and hereditary spherocytosis 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:11652283 (Homo sapiens)
  • 17 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 27 papers in RGD have been used to annotate SLC4A1
  • Curation Notes: ClinVar Annotator: match by term: Spherocytosis, Dominant
  • Original References(s): PMID:25741868 PMID:36231035


    • An association has been curated linking SLC4A1 and hereditary spherocytosis 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:11613046|RGD:11615370|RGD:11617332|RGD:11618415|RGD:11634313|RGD:11634683|RGD:11648757|RGD:11651127 (Homo sapiens) & RGD:11613046|RGD:11615370|RGD:11617332|RGD:11618415|RGD:11634313|RGD:11634683|RGD:11648757|RGD:11651127 (Homo sapiens) & RGD:11613046|RGD:11615370|RGD:11617332|RGD:11618415|RGD:11634313|RGD:11634683|RGD:11648757|RGD:11651127 (Homo sapiens) & RGD:11613046|RGD:11615370|RGD:11617332|RGD:11618415|RGD:11634313|RGD:11634683|RGD:11648757|RGD:11651127 (Homo sapiens) & RGD:11613046|RGD:11615370|RGD:11617332|RGD:11618415|RGD:11634313|RGD:11634683|RGD:11648757|RGD:11651127 (Homo sapiens) & RGD:11613046|RGD:11615370|RGD:11617332|RGD:11618415|RGD:11634313|RGD:11634683|RGD:11648757|RGD:11651127 (Homo sapiens) & RGD:11613046|RGD:11615370|RGD:11617332|RGD:11618415|RGD:11634313|RGD:11634683|RGD:11648757|RGD:11651127 (Homo sapiens) & RGD:11613046|RGD:11615370|RGD:11617332|RGD:11618415|RGD:11634313|RGD:11634683|RGD:11648757|RGD:11651127 (Homo sapiens)
  • 17 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 27 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 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:404986243 (Homo sapiens)
  • 17 RGD objects have been annotated to hereditary spherocytosis  (DOID:12971)
  • 27 papers in RGD have been used to annotate SLC4A1
  • Curation Notes: ClinVar Annotator: match by term: Spherocytosis
  • Original References(s): PMID:25741868 PMID:28492532


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