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 Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes. 6188062

1983
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 GeneticVariation CLINVAR ATA box transcription mutation in beta-thalassemia. 6308558

1983
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. 6585831

1984
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. 6585831

1984
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Pathological effects of sickle cell anemia on the pulp. 6585381

1984
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR "beta-Thalassemia in American Blacks: novel mutations in the ""TATA"" box and an acceptor splice site." 6583702

1984
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Molecular characterization of seven beta-thalassemia mutations in Asian Indians. 6714226

1984
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. 6583683

1984
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Molecular characterization of seven beta-thalassemia mutations in Asian Indians. 6714226

1984
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR "beta-Thalassemia in American Blacks: novel mutations in the ""TATA"" box and an acceptor splice site." 6583702

1984
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 GeneticVariation CLINVAR Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC. 6086605

1984
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Clinical presentation of homozygous sickle cell disease. 2582106

1985
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR The first observation of Hb D Punjab beta zero thalassaemia in an English family with 22 cases of unsuspected beta zero thalassaemia minor among its members. 4078867

1985
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Functional analysis of a beta-globin gene containing a TATA box mutation from a Kurdish Jew with beta thalassemia. 2987224

1985
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Beta-thalassemia resulting from a single nucleotide substitution in an acceptor splice site. 2987809

1985
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene. 4018033

1985
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Beta zero thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intron. 3780671

1986
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR The spectrum of beta-thalassemia genes in China and Southeast Asia. 2875755

1986
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Hemoglobin San Diego/beta zero thalassemia in a Greek adult. 3957694

1986
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Beta thalassemia due to a novel mutation in IVS 1 sequence donor site consensus sequence creating a restriction site. 3021139

1986
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 "The same ""TATA"" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation." 3021607

1986
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family. 3006832

1986