HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Disease: beta Thalassemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease CLINVAR Genotype-phenotype correlation and report of novel mutations in β-globin gene in thalassemia patients. 25976460 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR β-Globin Mutations in Egyptian Patients With β-Thalassemia. 25617386 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Novel Βeta (β)-Thalassemia Mutation in Turkish Children. 25825561 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Broader spectrum of β-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries. 25677748 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 AlteredExpression disease BEFREE More importantly, the gene-corrected β-Thal iPSC lines restored HBB expression and reduced reactive oxygen species production compared with the uncorrected group. 25517294 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Tetra-Primer ARMS PCR Optimization for Detection of IVS-II-I (G-A) and FSC 8/9 InsG Mutations in β-Thalassemia Major Patients in Isfahan Population. 25905082 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Spectrum of Beta Globin Gene Mutations in Egyptian Children with β-Thalassemia. 25408857 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Frequency of beta-thalassemia or beta-hemoglobinopathy carriers simultaneously affected with alpha-thalassemia in Iran. 25016698 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease CLINVAR Molecular epidemiological characterization and health burden of thalassemia in Jiangxi Province, P. R. China. 25000193 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia. 25332589 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease CLINVAR Coexistence of two β-globin gene deletions in a Chinese girl with β-thalassemia minor. 24200214 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease CLINVAR The spectrum of β-thalassemia mutations in Hatay, Turkey: reporting three new mutations. 25155404 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah. 24369358 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 Biomarker disease CTD_human Resveratrol accelerates erythroid maturation by activation of FoxO3 and ameliorates anemia in beta-thalassemic mice. 23975182 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR The spectrum of β-thalassemia mutations in Hatay, Turkey: reporting three new mutations. 25155404 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Molecular characterization of α- and β-thalassaemia among Malay patients. 24857915 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Hemoglobin Constant Spring is markedly high in women of an ethnic minority group in Vietnam: a community-based survey and hematologic features. 24368026 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease CLINVAR β -thalassemia intermedia in Northern Iraq: a single center experience. 24719849 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Coexistence of two β-globin gene deletions in a Chinese girl with β-thalassemia minor. 24200214 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 Biomarker disease BEFREE As a basis for developing transgenic induced pluripotent stem cell therapies for thalassemia, β(654) induced pluripotent stem cells from a β(654) -thalassemia mouse transduced with the normal human β-globin gene, and the induced pluripotent stem cells with an erythroid-expressing reporter GFP were used to produce chimeric mice. 24816238 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population. 25089872 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Molecular update of β-thalassemia mutations in the Syrian population: identification of rare β-thalassemia mutations. 24828949 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology. 24880717 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Molecular epidemiological characterization and health burden of thalassemia in Jiangxi Province, P. R. China. 25000193 2014