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 Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population. 27828729

2017
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Mutational Profile of Homozygous β-Thalassemia in Rio de Janeiro, Brazil. 28366028

2017
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Three novel HBB mutations, c.-140C>G (-90 C>G), c.237_256delGGACAACCTCAAGGGCACCT (FS Cd 78/85 -20 bp), and c.315+2T>G (IVS2:2 T>G). Update of the mutational spectrum of β-Thalassemia in Mexican mestizo patients. 28603845

2017
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 GeneticVariation CLINVAR Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations. 26635043

2016
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey. 27207683

2016
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Mutation in a Highly Conserved COOH-Terminal Residue of Krüppel-Like Factor 1 Associated with Elevated Hb F in a Compound Heterozygous β-Thalassemia Patient with a Nontransfusion-Dependent Thalassemia Phenotype. 27821015

2016
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR The Spectrum of β-Thalassemia Mutations in a Population from the Brazilian Amazon. 26372288

2016
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Spectrum of Beta Globin Gene Mutations in Egyptian Children with β-Thalassemia. 25408857

2014
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia. 25332589

2014
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation 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: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population. 25089872

2014
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Prenatal and newborn screening for hemoglobinopathies. 23590658

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 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: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 GeneticVariation CLINVAR Genotyping of beta thalassemia trait by high-resolution DNA melting analysis. 24450243

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR The spectrum of β-thalassemia mutations in Gaza Strip, Palestine. 23321370

2013
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Prenatal screening for β-thalassemia major reveals new and rare mutations in the Pakistani population. 22392582

2012
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Experience with multiplex ARMS (MARMS)-PCR for the detection of common β-thalassemia mutations in India. 22239493

2012
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Molecular analysis of β-thalassemia patients: first identification of mutations HBB:c.93-2A>G and HBB:c.114G>A in Brazil. 21797703

2011
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Molecular characteristics of three hemoglobin variants observed in a Chinese population: Hb Ube-1 [β98 (FG5) Val→Met], Hb Ube‑2 [α68 (E17) Asn→Asp] and Hb Ube‑4 [α116 (GH4) Glu→Ala]. 21523319

2011
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Molecular lesion frequency of hemoglobin gene disorders in Taiwan. 21599435

2011
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon. 21389146

2011
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. 21423179

2011
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Molecular basis of β-thalassemia in the United Arab Emirates. 22074124

2011
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Hemoglobinopathies in North Africa: a review. 20113284

2010
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.500 CausalMutation CLINVAR Evaluation of the genetic basis of phenotypic heterogeneity in north Indian patients with thalassemia major. 20132300

2010