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 A new single nucleotide change at the initiation codon (ATG----AGG) identified in amplified genomic DNA of a Chinese beta-thalassemic patient. 2306523

1990
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR A newly discovered beta O-thalassemia (IVS-II-850, G-->A) mutation in a north European family. 7558878

1995
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR A note about the incidence and origin of Hb D-Punjab in Xinjiang, People's Republic of China. 3557998

1986
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR A novel beta zero-thalassaemia mutation (codon 15, TGG----TGA) is prevalent in a population of central Portugal. 1581247

1992
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR A novel beta+-thalassemia mutation (codon 10 GCC --> GCA) and a rare transcriptional mutation (-28A --> G) in Indians. 9160698

1997
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR A novel beta-globin mutation (HBB:c.107A>G; or codon 35 beta (A-->G)) at alpha-beta chain interfaces. 19488752

2009
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR A novel frameshift mutation causing beta-thalassaemia in Azerbaijan. 2525253

1989
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR A novel frameshift mutation [FSC 47 (+A)] causing beta-thalassemia in a Surinam patient. 2283303

1990
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR A novel frameshift mutation: deletion of C in codons 74/75 of the beta-globin gene causes beta zero-thalassemia in a Turkish patient. 1517110

1992
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR A novel globin structural mutant, Showa-Yakushiji (beta 110 Leu-Pro) causing a beta-thalassemia phenotype. 2822177

1987
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR A novel sickle cell mutation of yet another origin in Africa: the Cameroon type. 1376298

1992
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR A novel sickling hemoglobinopathy. 22010933

2011
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR A promoter mutation of the beta-globin gene (-101 C-->T) has an age-related expression pattern. 7683931

1993
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR A rare beta-thalassaemia mutation (C-T) at position -90 of the beta-globin gene discovered in a Chinese family. 14555318

2003
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR A rare mutation [IVS-I-130 (G-A)] in a Turkish beta-thalassemia major patient. 10706767

2000
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR A second observation of the rare frameshift mutation in the β-globin gene: codon 46 (+A) (Hbb:c.138_139insA). 21417574

2011
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR A significant beta-thalassemia heterogeneity in the United Arab Emirates. 9140720

1997
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing. 7151176

1982
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR A substitution of cytosine for thymine in codon 110 of the human beta-globin gene is a novel cause of beta-thalassemia phenotypes. 3417300

1988
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Abnormal processing of beta Knossos RNA. 6733281

1984
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Abnormal processing of beta-Malay globin RNA. 2775294

1989
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Abnormal RNA processing due to the exon mutation of beta E-globin gene. 7177196

1982
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Abnormal splice in a mutant human beta-globin gene not at the site of a mutation. 6298782

1983
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 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760

2013