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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking SLC4A1 and ACANTHOCYTOSIS 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:8600736 (Homo sapiens)
  • 1 RGD objects have been annotated to ACANTHOCYTOSIS  (DOID:9009133)
  • 27 papers in RGD have been used to annotate SLC4A1
  • Curation Notes: ClinVar Annotator: match by term: Acanthocytosis due to band 3 ht
  • Original References(s): PMID:1696010 PMID:2527366 PMID:28492532 PMID:8343110


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