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 CausalMutation CLINVAR Molecular epidemiological characterization and health burden of thalassemia in Jiangxi Province, P. R. China. 25000193

2014
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Molecular update of β-thalassemia mutations in the Syrian population: identification of rare β-thalassemia mutations. 24828949

2014
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation 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
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR β -thalassemia intermedia in Northern Iraq: a single center experience. 24719849

2014
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR The mechanism by which TATA-box polymorphisms associated with human hereditary diseases influence interactions with the TATA-binding protein. 24616209

2014
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Molecular analysis of beta-globin gene mutations among Thai beta-thalassemia children: results from a single center study. 25525381

2014
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Hemoglobinopathy: molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China. 23383304

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR The spectrum of β-thalassemia mutations in Gaza Strip, Palestine. 23321370

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Identification of two rare β-globin gene mutations in a patient with β-thalassemia intermedia from Azerbaijan. 23510507

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset β-thalassemia major. 22983591

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Molecular characterization of β-thalassemia in four communities in South Gujarat--codon 30 (G → A) a predominant mutation in the Kachhiya Patel community. 23665927

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR The spectrum of β-thalassemia mutations in Gaza Strip, Palestine. 23321370

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR The clinical and laboratory spectrum of Hb C [β6(A3)Glu→Lys, GAG>AAG] disease. 23297836

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Problems in determining thalassemia carrier status in a program for prevention and control of severe thalassemia syndromes: a lesson from Thailand. 23525874

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Spectrum of β-thalassemia mutations in Guizhou Province, PR China, including first observation of codon 121 (GAA>TAA) in Chinese population. 24080465

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?). 23859443

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR The molecular basis of β-thalassemia. 23637309

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR South-Italy β°-thalassemia: a novel deletion not removing the γ-globin silencing element and with 3' breakpoint in a hsRTVL-H element, associated with β°-thalassemia and high levels of HbF. 23812938

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Mild β(+)-thalassemia associated with two linked sequence variants: IVS-II-839 (T>C) and IVS-II-844 (C>A). 23651435

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Hemoglobinopathy: molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China. 23383304

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Hereditary hemolytic anemia in Korea from 2007 to 2011: A study by the Korean Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology. 24086942

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas. 22981786

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Prediction of mutant mRNA splice isoforms by information theory-based exon definition. 23348723

2013