Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cooley's anemia
CUI: C0002875
Disease: Cooley's anemia
0.050 GeneticVariation BEFREE Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major. 31707418 2019
Cooley's anemia
CUI: C0002875
Disease: Cooley's anemia
0.050 GeneticVariation BEFREE Investigation of correlation between H63D and C282Y mutations in HFE gene and serum Ferritin level in beta-thalassemia major patients. 31679808 2019
Cooley's anemia
CUI: C0002875
Disease: Cooley's anemia
0.050 GeneticVariation BEFREE Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan. 31522215 2019
Cooley's anemia
CUI: C0002875
Disease: Cooley's anemia
0.050 GeneticVariation BEFREE Distribution of C282Y and H63D mutations in the HFE gene in healthy Asian Indians and patients with thalassaemia major. 14765621 2004
Cooley's anemia
CUI: C0002875
Disease: Cooley's anemia
0.050 GeneticVariation BEFREE Screening a cohort of beta-thalassaemia major and sickle cell anaemia patients of predominantly Mediterranean origin showed that these individuals do not have the common C282Y mutation. 11186424 2000