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: C4025630
Disease: Abnormal bone structure
Abnormal bone structure
0.100 Biomarker disease HPO
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 AlteredExpression disease BEFREE The beta globin 3' enhancer element confers regulated expression on the human gamma globin gene in the human embryonic-fetal erythroleukemia cell line K562. 1993224 1991
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 Biomarker disease BEFREE Function of normal and mutated gamma-globin gene promoters in electroporated K562 erythroleukemia cells. 1689192 1990
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 AlteredExpression disease BEFREE We have analysed the expression of cloned human fetal gamma-globin genes introduced into murine erythroleukemia cells by a protoplast fusion procedure. 3463509 1986
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 PosttranslationalModification disease BEFREE Binding of SSP to the stage selector element (SSE) in the proximal gamma-globin promoter is integral to the competitive silencing of a linked beta-promoter in embryonic/fetal stage erythroleukemia (K562) cells. 7828600 1995
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 PosttranslationalModification disease BEFREE High-resolution analysis of the human gamma-globin gene promoter in K562 erythroleukemia cell chromatin. 3165297 1988
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 AlteredExpression disease BEFREE Expression of human gamma-globin genes in human erythroleukemia (K562) cells. 2445753 1987
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 AlteredExpression disease BEFREE Single-copy transduction and expression of human gamma-globin in K562 erythroleukemia cells using recombinant adeno-associated virus vectors: the effect of mutations in NF-E2 and GATA-1 binding motifs within the hypersensitivity site 2 enhancer. 8400240 1993
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 AlteredExpression disease BEFREE CARM1-mediated methylation of protein arginine methyltransferase 5 represses human γ-globin gene expression in erythroleukemia cells. 30257864 2018
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 AlteredExpression disease BEFREE Reductions in gamma-globin mRNA levels restricted to the cytoplasm of 5-fluorouridine treated K-562 human erythroleukemia cells. 2369550 1990
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 GeneticVariation disease BEFREE DMF recruited Nrf2 to the γ-globin promoters and the locus control region of the β-globin locus in erythroleukemia cells, elevated HbF in SCD donor-derived erythroid progenitors, and reduced hypoxia-induced sickling. 29046485 2017
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 AlteredExpression disease BEFREE More importantly, PNA-mediated induction of endogenous gamma-globin gene expression was also demonstrated in K562 human erythroleukemia cells. 10373600 1999
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 Biomarker disease BEFREE K562 human erythroleukemia cells can be induced by hemin and other stimuli to produce hemoglobin and actively express epsilon- and gamma-globin genes but not the adult-like beta-globin gene. 2457030 1988
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 Biomarker disease BEFREE In this study, we used nuclear extracts from murine erythroleukemia cells to purify a protein complex that binds the HPFH -198 gamma-globin gene promoter. 17114178 2007
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 Biomarker disease BEFREE Murine erythroleukemia cell line GM979 contains factors that can activate silent chromosomal human gamma-globin genes. 1848707 1991
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 Biomarker disease BEFREE To determine the effect of fragments containing LAR sequences on globin gene expression, mRNA from a marked gamma-globin gene linked to LAR fragments was assayed in stably transfected K562 erythroleukemia cells. 2339058 1990
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 AlteredExpression disease BEFREE In this report, we compare the function of the human beta-globin locus control region (LCR) in three K562 erythroleukemia cell assays, including (1) a transient transfection assay for "classical" enhancer activity, (2) a colony assay that detects "productive integration events," and (3) an assay that detects the ability of LCR fragments to confer hemin inducibility on linked, stably integrated gamma-globin promoters. 1709381 1991
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
0.300 Biomarker disease CTD_human The early phase of experimental acute renal failure. I. Intratubular pressure and obstruction. 562503 1977
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
0.300 Biomarker disease CTD_human Morphologic demonstration of tubular obstruction in acute renal failure. 851170 1977
CUI: C1565662
Disease: Acute Kidney Insufficiency
Acute Kidney Insufficiency
0.300 Biomarker disease CTD_human The early phase of experimental acute renal failure. I. Intratubular pressure and obstruction. 562503 1977
CUI: C1565662
Disease: Acute Kidney Insufficiency
Acute Kidney Insufficiency
0.300 Biomarker disease CTD_human Morphologic demonstration of tubular obstruction in acute renal failure. 851170 1977
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias
0.010 AlteredExpression disease BEFREE Erythroid-specific mRNAs encoding gamma-globin and erythroid delta-aminolevulinate synthase were found to be expressed in blasts from most of these cases, indicating that majorities of the blasts in M7 and TMD cases have erythroid and megakaryocytic phenotypes. 7647001 1995
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
0.100 Biomarker disease BEFREE Function of normal and mutated gamma-globin gene promoters in electroporated K562 erythroleukemia cells. 1689192 1990
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
0.100 AlteredExpression disease BEFREE In this report, we compare the function of the human beta-globin locus control region (LCR) in three K562 erythroleukemia cell assays, including (1) a transient transfection assay for "classical" enhancer activity, (2) a colony assay that detects "productive integration events," and (3) an assay that detects the ability of LCR fragments to confer hemin inducibility on linked, stably integrated gamma-globin promoters. 1709381 1991
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
0.100 Biomarker disease BEFREE K562 human erythroleukemia cells can be induced by hemin and other stimuli to produce hemoglobin and actively express epsilon- and gamma-globin genes but not the adult-like beta-globin gene. 2457030 1988