Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Novel Βeta (β)-Thalassemia Mutation in Turkish Children. | 25825561 | 2015 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Molecular update of β-thalassemia mutations in the Syrian population: identification of rare β-thalassemia mutations. | 24828949 | 2014 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | β -thalassemia intermedia in Northern Iraq: a single center experience. | 24719849 | 2014 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Frequency of beta-thalassemia or beta-hemoglobinopathy carriers simultaneously affected with alpha-thalassemia in Iran. | 25016698 | 2014 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Prevalence and molecular analysis of β-thalassemia in Adiyaman, Turkey. | 22356097 | 2012 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Molecular Diagnostics of β-Thalassemia. | 24052746 | 2012 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Molecular Genetic Characterization of β-Thalassemia and Sickle Cell Syndrome in the Albanian Population. | 24052702 | 2011 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). | 20437613 | 2010 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Detection of responsible mutations for beta thalassemia in the Kermanshah Province of Iran using PCR-based techniques. | 19437135 | 2010 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Current Genetic Epidemiology of β-Thalassemias and Structural Hemoglobin Variants in the Lazio Region (Central Italy) Following Recent Migration Movements. | 20975770 | 2010 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | A significant beta-thalassemia heterogeneity in the United Arab Emirates. | 9140720 | 1997 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Levels of Hb A2 in heterozygotes and homozygotes for beta-thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter. | 9401495 | 1997 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | Molecular characterization of beta-thalassemia in Czechoslovakia. | 1740317 | 1992 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | A mutation of CDS 82/83 (-G) observed in a Yugoslavian family with a heterozygosity for beta-thalassemia. | 1517107 | 1992 | |||||
beta Thalassemia
|
0.700 | CausalMutation | CLINVAR | A novel frameshift mutation causing beta-thalassaemia in Azerbaijan. | 2525253 | 1989 |