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: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). 20437613

2010
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Abnormal hemoglobin phenotypes in carriers of mild anemia in Latin America. 20309827

2010
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population. 20395516

2010
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia. 20704537

2010
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93-2A > C) case of thalassaemia major. 19486366

2010
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Phenotypic expression and origin of the rare beta-thalassemia splice site mutation HBB:c.315 + 1G>T. 20524821

2010
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 GeneticVariation CLINVAR Detection of responsible mutations for beta thalassemia in the Kermanshah Province of Iran using PCR-based techniques. 19437135

2010
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population. 19254853

2009
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 GeneticVariation CLINVAR Impact of single nucleotide polymorphisms in HBB gene causing haemoglobinopathies: in silico analysis. 19429541

2009
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes. 21119755

2009
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations. 19460936

2009
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 GeneticVariation CLINVAR Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations. 19460936

2009
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Hydroxyurea in sickle cell disease--a study of clinico-pharmacological efficacy in the Indian haplotype. 18954999

2009
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR The molecular heterogeneity of beta-thalassemia in Greece. 18096416

2008
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity. 18294253

2008
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Molecular basis of beta-thalassemia in Morocco: possible origins of the molecular heterogeneity. 18976160

2008
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Rapid genotyping of known mutations and polymorphisms in beta-globin gene based on the DHPLC profile patterns of homoduplexes and heteroduplexes. 18339318

2008
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Combination of Hb Knossos [Cod 27 (G-T)] and IVSII-745 (C-G) in a Turkish patient with beta-thalassemia major. 17949282

2007
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Characterisation and confirmation of rare beta-thalassaemia mutations in the Malay, Chinese and Indian ethnic groups in Malaysia. 17008283

2006
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR The prevalence and molecular basis of hemoglobinopathies in Cambodia. 16987801

2006
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Molecular spectrum of beta-thalassemia in the Mexican population. 15315794

2005
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Parallel minisequencing followed by multiplex matrix-assisted laser desorption/ionization mass spectrometry assay for beta-thalassemia mutations. 15761692

2005
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Contribution to the description of the beta-thalassemia spectrum in Tunisia and the origin of mutation diversity. 15481885

2004
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR A frameshift at codons 77/78 (-C): a novel beta-thalassemia mutation. 15481896

2004
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Clinical and molecular aspects of haemoglobinopathies in Tunisia. 14734204

2004