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Variant profile

C282Y

C282Y · SaudiVarKB evidence summary derived from retained literature mentions.

6Variant mentions
6Publications
1Associated gene records
2Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
HFEHGNC:488666

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
diabetes mellitus22
thalassemiaHP:000187822

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Population recordCohort 222
Population recordCohort 20411
Population recordCohort 56011

Supporting publications

6 records
  1. 2019Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.Saudi medical journal1 mentions
  2. 2019Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major.Saudi medical journal1 mentions
  3. 2013Correlation of hemochromatosis gene mutations and cardiovascular disease in hemodialysis patients.Annals of Saudi medicine1 mentions
  4. 2011Hereditary hemochromatosis of tongue.Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics1 mentions
  5. 2009Hemochromatosis and Vibrio vulnificus wound infections.Journal of clinical gastroenterology1 mentions
  6. 2008Hemochromatosis gene (HFE) mutations in patients with type 2 diabetes and their control group in an Iranian population.Saudi medical journal1 mentions