HBG2, hemoglobin subunit gamma 2, 3048

N. diseases: 112; N. variants: 42
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
0.010 Biomarker group BEFREE MHb levels of 70% are generally lethal, but the existence of underlying anemia, acidosis, respiratory compromise, and cardiac disease may exacerbate the toxicity of MHb. 30293223 2019
Iron-Refractory Iron Deficiency Anemia
0.010 Biomarker disease BEFREE In a study ambispective comprising 1623 patients, 153 subjects showed an abnormal hemoglobin and 1470 with hypochromic and microcytic anemia, and of these 1470, 23 patients were studied for simultaneously α-thalassemias and structural hemoglobinopathies. 31025160 2019
CUI: C0277941
Disease: Blanching of skin
Blanching of skin
0.010 AlteredExpression phenotype BEFREE Moreover, it produced an elevation in methemoglobin levels and skin blanching. 30587535 2019
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.010 AlteredExpression disease BEFREE Sickle cell disease (SCD) is an autosomal recessive disorder that results in hemolytic anemia related to abnormal hemoglobin and erythrocyte levels. 29309293 2018
CUI: C0375071
Disease: Malignant neoplasm of vulva
Malignant neoplasm of vulva
0.010 GeneticVariation disease BEFREE A 47-year-old female with medical history of vulvar cancer and HIV undergoing chemoradiation was sent by the oncology clinic to the emergency department for worsening dyspnea, fatigue, hypoxia to 78% on room air, and gradual onset of cyanosis over the past week.A methemoglobin (MetHb) level was 49%. 27754990 2018
CUI: C0677055
Disease: CARCINOMA OF VULVA
CARCINOMA OF VULVA
0.010 GeneticVariation disease BEFREE A 47-year-old female with medical history of vulvar cancer and HIV undergoing chemoradiation was sent by the oncology clinic to the emergency department for worsening dyspnea, fatigue, hypoxia to 78% on room air, and gradual onset of cyanosis over the past week.A methemoglobin (MetHb) level was 49%. 27754990 2018
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
0.010 Biomarker disease BEFREE Although BCL11A was shown to suppress γ-globin and p21 and to induce MDM2 expression in the hematopoietic system, its downstream targets in TNBC are still unclear. 29263092 2018
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.010 Biomarker disease BEFREE Although BCL11A was shown to suppress γ-globin and p21 and to induce MDM2 expression in the hematopoietic system, its downstream targets in TNBC are still unclear. 29263092 2018
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 AlteredExpression disease BEFREE Symptoms occur at varying methemoglobin levels and are more severe in patients with pre-existing coronary disease or chronic lung disease. 28699887 2017
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.010 Biomarker group BEFREE We developed a double gene lentiviral vector encoding both human γ-globin and NA10HD, which was used to transduce human peripheral blood CD34<sup>+</sup> cells and increased engraftment 2- to 2.5-fold at 15 weeks post-transplantation in immunodeficient mice. 28190779 2017
CUI: C0235574
Disease: Intravascular hemolysis
Intravascular hemolysis
0.010 Biomarker disease BEFREE In these patients, excessive intravascular hemolysis saturates scavenger mechanisms resulting in free hemoglobin in plasma that irreversibly reacts with nitric oxide to form nitrate and methemoglobin, leading to arterial thrombosis. 28622911 2017
CUI: C0271995
Disease: HPFH deletion type
HPFH deletion type
0.010 Biomarker disease BEFREE Hereditary persistence of fetal hemoglobin deletion type-2 (HPFH-2) and Sicilian-δβ-thalassemia are conditions described as large deletions of the human β-like globin cluster, with absent β-globin chains and a compensatory variable increase in γ-globin. 27591578 2017
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease
0.010 AlteredExpression disease BEFREE Symptoms occur at varying methemoglobin levels and are more severe in patients with pre-existing coronary disease or chronic lung disease. 28699887 2017
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
0.010 GeneticVariation disease BEFREE Sickle cell trait (SCT) places individuals at risk of passing an abnormal hemoglobin gene to biological children and is associated with rare but serious complications. 27550467 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 AlteredExpression disease BEFREE Symptoms occur at varying methemoglobin levels and are more severe in patients with pre-existing coronary disease or chronic lung disease. 28699887 2017
CUI: C0521800
Disease: Central cyanosis
Central cyanosis
0.010 GeneticVariation phenotype BEFREE Although rare, congenital methaemoglobin aemia should be considered in the differential in a preterm with central cyanosis and investigated with genetic testing for γ globin chain mutations if other laboratory tests are non-conclusive. 26969357 2016
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
0.010 AlteredExpression group BEFREE Given that increased expression of γ-globin leads to increased levels of fetal hemoglobin which confers protection against malaria, we hypothesize that evolution in Africa of protection against malaria may have occurred at the cost of increased serum uric acid levels, contributing to the high rates of hyperuricemia and associated cardio-metabolic disorders observed in African Americans. 26686224 2015
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.010 AlteredExpression disease BEFREE Given that increased expression of γ-globin leads to increased levels of fetal hemoglobin which confers protection against malaria, we hypothesize that evolution in Africa of protection against malaria may have occurred at the cost of increased serum uric acid levels, contributing to the high rates of hyperuricemia and associated cardio-metabolic disorders observed in African Americans. 26686224 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.010 Biomarker disease BEFREE In our study of 97 patients with an IBMFS, increased Hb F was associated with young age, male gender, anaemia, high erythropoietin levels, and alternative alleles in Xmn1-HBG2 [adjusted P = 0·04 for the total group, driven by Fanconi anaemia (P = 0·02) and dyskeratosis congenita (P = 0·09)]. 23713742 2013
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
0.010 AlteredExpression group BEFREE B-cell lymphoma 11A (BCL11A) downregulation in human primary adult erythroid progenitors results in elevated expression of fetal γ-globin. 23361909 2013
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
0.010 GeneticVariation disease BEFREE In our study of 97 patients with an IBMFS, increased Hb F was associated with young age, male gender, anaemia, high erythropoietin levels, and alternative alleles in Xmn1-HBG2 [adjusted P = 0·04 for the total group, driven by Fanconi anaemia (P = 0·02) and dyskeratosis congenita (P = 0·09)]. 23713742 2013
NADH cytochrome B5 reductase deficiency
0.010 GeneticVariation disease BEFREE Neonatal cyanosis in healthy newborns can be associated either with methemoglobin due to cytochrome b5 reductase deficiency or to M-hemoglobin, a group of hemoglobin variants resulting from mutations in the globin chain genes. 22935660 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation disease BEFREE Hemoglobin binding to A beta and HBG2 SNP association suggest a role in Alzheimer's disease. 17157413 2008
CUI: C0399440
Disease: Hereditary gingival fibromatosis
Hereditary gingival fibromatosis
0.010 GeneticVariation disease BEFREE However, gene expression profile analysis revealed reduced expression of hemoglobin beta (HBB), hemoglobin delta (HBD), hemoglobin gamma A (HBG1) and hemoglobin gamma G (HBG2) genes at disease locus in HGF patients. 17075716 2007
CUI: C0221016
Disease: Red blood cell disorder
Red blood cell disorder
0.010 Biomarker group BEFREE Newly identified modifiers of alpha- and gamma-globin synthesis and insights into the mechanisms of globin regulation provide the tools for potential new approaches to treating this and other red blood cell disorders. 15931385 2005