HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.100 Biomarker phenotype HPO
CUI: C4025630
Disease: Abnormal bone structure
Abnormal bone structure
0.100 Biomarker disease HPO
CUI: C0349705
Disease: Abnormal hemoglobin finding
Abnormal hemoglobin finding
0.100 Biomarker phenotype HPO
Abnormality of metabolism/homeostasis
0.100 Biomarker phenotype HPO
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
0.100 Biomarker phenotype HPO
Abnormality of the hypothalamus-pituitary axis
0.100 Biomarker disease HPO
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
0.100 Biomarker disease HPO
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen
0.100 Biomarker disease HPO
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax
0.100 Biomarker disease HPO
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
0.100 Biomarker disease HPO
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 AlteredExpression disease BEFREE CAAT/enhancer-binding proteins are involved in beta-globin gene expression and are differentially expressed in murine erythroleukemia and K562 cells. 8663270 1996
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 AlteredExpression disease BEFREE In addition, beta-globin gene expression has been evaluated in human erythroleukemia cells, K562 cells, and, although stable transformants with integrated beta-globin genes have been obtained, none of these transformants expressed the added beta-globin genes. 2990298 1985
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 GeneticVariation disease BEFREE To resolve the apparent paradox of hypermethylated LTRs possessing transcriptional activities, we studied the ERV-9 LTR retrotransposon located at the 5' border of the transcriptionally active β-globin gene locus in human erythroid progenitor and erythroleukemia K562 cells. 28165867 2017
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 AlteredExpression disease BEFREE These recombinant virions were used to infect a human erythroleukemia cell line which normally does not express the beta-globin gene (K562), or a human nasopharyngeal carcinoma cell line (KB). 8646553 1996
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 AlteredExpression disease BEFREE Expression from a virally transferred gamma- or beta-globin gene exceeded endogenous gamma- or beta-globin expression by a factor of 6 or more in the human erythroleukemia line KMOE, in which the endogenous globin genes are weakly inducible. 1693523 1990
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 AlteredExpression disease BEFREE Controls with the beta-globin gene, which is constitutively nonexpressed in Namalva-S cells but upon induction is highly expressed in murine erythroleukemia cells, completely confirmed the conclusion we had made for the intranuclear localization of c-myc. 1379916 1992
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 PosttranslationalModification disease BEFREE Using chromatin immunoprecipitation assays, we show that PIAS3 preferentially occupies the β-globin promoter in undifferentiated murine erythroleukemia cells. 25713074 2015
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 AlteredExpression disease BEFREE Trans acting regulation of beta globin gene expression in erythroleukemia (K562) cells. 2991858 1985
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 AlteredExpression disease BEFREE A cosmid construct containing extensive human gamma- and beta-globin gene promoter and structural sequences as well as upstream control sequences also exhibits higher levels of globin gene transcription in K562 NE than in HeLa NE. 8353292 1993
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 GeneticVariation disease BEFREE Activation of the beta-globin promoter by the locus control region correlates with binding of a novel factor to the CAAT box in murine erythroleukemia cells but not in K562 cells. 8413287 1993
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 GeneticVariation disease BEFREE Erythroleukemia (K562) cells contain a functional beta-globin gene. 6595498 1984
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 AlteredExpression disease BEFREE Human alpha- and beta-globin gene transcription in mouse erythroleukaemia cells. 6151696 1984
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 Biomarker disease BEFREE To determine the critical cis-acting elements, hybrid genes containing elements of the gamma and beta globin genes were transfected into K562 cells, a human erythroleukemia line. 2735651 1989
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 Biomarker disease BEFREE Introduction of a virus containing the beta-globin gene with introns into murine erythroleukemia cells resulted in inducible expression of human beta-globin RNA and protein, while the viruses containing the minigene were inactive. 3288863 1988
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.100 Biomarker disease BEFREE Both proteins were expressed in and secreted by murine erythroleukemia cells under the control of the human beta-globin promoter placed down-stream from the human globin locus control region. 7530072 1994