HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Disease: beta Thalassemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease CLINVAR [Symptomatic extramedullary haematopoiesis in β-thalassemia: A retrospective single centre study]. 26410419 2016
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population. 27263053 2016
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease CLINVAR Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation. 26076395 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease CLINVAR Molecular Scanning of β-Thalassemia in the Southern Region of Central Java, Indonesia; a Step Towards a Local Prevention Program. 26291967 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease CLINVAR Genetic heterogeneity of the β-globin gene in various geographic populations of Yunnan in southwestern China. 25849334 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease CLINVAR Molecular Epidemiological Investigation of Thalassemia in the Chengdu Region, Sichuan Province, Southwest China. 26290351 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Genetic heterogeneity of the β-globin gene in various geographic populations of Yunnan in southwestern China. 25849334 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Identification of a novel mutation in the β-globin gene 3' untranslated region (HBB: c.*+118A > G) in Spain. 25572186 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Variable phenotypes of sickle cell disease in India with the Arab-Indian haplotype. 25135424 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE Identification of novel microsatellite markers <1 Mb from the HBB gene and development of a single-tube pentadecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of beta-thalassemia. 26331357 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease CLINVAR Novel Βeta (β)-Thalassemia Mutation in Turkish Children. 25825561 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation. 26076395 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE Occult β globin gene (HBB) mutations and δ globin gene (HBD) abnormalities masking β thalassaemia are not seen. 25352644 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease CLINVAR Very mild forms of Hb S/beta(+)-thalassemia in Brazilian children. 26041423 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Clinical and Molecular Characteristics of Non-Transfusion-Dependent Thalassemia in Kuwait. 26076396 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR A genetic score for the prediction of beta-thalassemia severity. 25480500 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Spectrum of α-thalassemia and β-thalassemia mutations in the Guilin Region of southern China. 26079343 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β -Globin Gene with the IVSI-6 Thalassemia Mutation. 26097845 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease CLINVAR A genetic score for the prediction of beta-thalassemia severity. 25480500 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease CLINVAR Variable phenotypes of sickle cell disease in India with the Arab-Indian haplotype. 25135424 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 Biomarker disease BEFREE β- thalassaemia is a disorder of globin gene synthesis resulting in reduced or absent production of the β-globin chain in red blood cells. 25892530 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR First Detection of a Splice Site β-Thalassemia Mutation, IVS-I-6 (T > C) (HBB: c.92 + 6T > C) in a Chinese Family. 25856402 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Molecular Scanning of β-Thalassemia in the Southern Region of Central Java, Indonesia; a Step Towards a Local Prevention Program. 26291967 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 CausalMutation disease CLINVAR Genotype-phenotype correlation and report of novel mutations in β-globin gene in thalassemia patients. 25976460 2015