Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Red blood cells free α-haemoglobin pool: a biomarker to monitor the β-thalassemia intermedia variability. The ALPHAPOOL study. 28643346

2017
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR The First Report of a 290-bp Deletion in β-Globin Gene in the South of Iran. 26948378

2017
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Prevalence and genetic analysis of α- and β-thalassemia in Baise region, a multi-ethnic region in southern China. 26877226

2017
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Molecular Characterization of β-Thalassemia Mutations in Central Vietnam. 28671035

2017
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Molecular Characterization of β-Thalassemia Intermedia in Southeast Iran. 27117567

2016
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR). 27756326

2016
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Beta thalassemia in 31,734 cases with HBB gene mutations: Pathogenic and structural analysis of the common mutations; Iran as the crossroads of the Middle East. 27453201

2016
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR [Symptomatic extramedullary haematopoiesis in β-thalassemia: A retrospective single centre study]. 26410419

2016
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population. 27263053

2016
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation. 26076395

2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Molecular Scanning of β-Thalassemia in the Southern Region of Central Java, Indonesia; a Step Towards a Local Prevention Program. 26291967

2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Genetic heterogeneity of the β-globin gene in various geographic populations of Yunnan in southwestern China. 25849334

2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Molecular Epidemiological Investigation of Thalassemia in the Chengdu Region, Sichuan Province, Southwest China. 26290351

2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Genetic heterogeneity of the β-globin gene in various geographic populations of Yunnan in southwestern China. 25849334

2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Identification of a novel mutation in the β-globin gene 3' untranslated region (HBB: c.*+118A > G) in Spain. 25572186

2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Variable phenotypes of sickle cell disease in India with the Arab-Indian haplotype. 25135424

2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Novel Βeta (β)-Thalassemia Mutation in Turkish Children. 25825561

2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation. 26076395

2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Very mild forms of Hb S/beta(+)-thalassemia in Brazilian children. 26041423

2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Clinical and Molecular Characteristics of Non-Transfusion-Dependent Thalassemia in Kuwait. 26076396

2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR A genetic score for the prediction of beta-thalassemia severity. 25480500

2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Spectrum of α-thalassemia and β-thalassemia mutations in the Guilin Region of southern China. 26079343

2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β -Globin Gene with the IVSI-6 Thalassemia Mutation. 26097845

2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR A genetic score for the prediction of beta-thalassemia severity. 25480500

2015