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 GeneticVariation CLINVAR Sickle cell anemia, sickle cell beta-thalassemia, and thalassemia major in Albania: characterization of mutations. 8112743

1994
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Red blood cells free α-haemoglobin pool: a biomarker to monitor the β-thalassemia intermedia variability. The ALPHAPOOL study. 28643346

2017
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 CausalMutation CLINVAR Hb Showa-Yakushiji [beta110(G12)Leu-->Pro] in four unrelated patients from west Bengal. 15768552

2005
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Inherited hemoglobin disorders in Andhra Pradesh, India: a population study. 19000664

2009
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 Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation. 26076395

2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3' end TAG-->GAG in a Chinese patient. 8435318

1993
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Molecular Scanning of β-Thalassemia in the Southern Region of Central Java, Indonesia; a Step Towards a Local Prevention Program. 26291967

2015
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 CausalMutation CLINVAR IVS-I-1 (G-->C) in combination with -42 (C-->G) in the promoter region of the beta-globin gene in patients from Tajikistan. 8330981

1993
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR The great heterogeneity of thalassemia molecular defects in Sicily. 7759073

1995
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Variable haematological and clinical presentation of β-thalassaemia carriers and homozygotes with the Poly A (T→C) mutation in the Indian population. 22690826

2012
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Combinations of beta chain abnormal hemoglobins with each other or with beta-thalassemia determinants with known mutations: influence on phenotype. 9342003

1997
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Molecular basis of HbE-beta-thalassemia and the origin of HbE in northeast Thailand: identification of one novel mutation using amplified DNA from buffy coat specimens. 1974422

1990
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Towards a prevention program for β-thalassemia. The molecular spectrum in East Java, Indonesia. 22188014

2012
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation CLINVAR Genetic heterogeneity of the β-globin gene in various geographic populations of Yunnan in southwestern China. 25849334

2015
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles. 11857746

2002
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR A beta-thalassemia mutation found in Korea. 1517111

1992
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Three new beta-thalassemia mutations with varying degrees of severity. 19657836

2009
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Spectrum of Beta Globin Gene Mutations in Egyptian Children with β-Thalassemia. 25408857

2014
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation 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: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Molecular basis of β-thalassemia in the western province of Saudi Arabia: identification of rare β-thalassemia mutations. 21797702

2011
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR High incidence of the CD8/9 (+G) beta 0-thalassemia mutation in Spain. 9949622

1998
Entrez Id: 3043
Gene Symbol: HBB
HBB
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation CLINVAR Towards a prevention program for β-thalassemia. The molecular spectrum in East Java, Indonesia. 22188014

2012