G6PD, glucose-6-phosphate dehydrogenase, 2539

N. diseases: 410; N. variants: 66
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015702
Disease: Favism
Favism
0.600 Biomarker disease BEFREE In this study, deep sequencing was used to analyze liver genes expression alterations underlying the effects of FB in C3H (Wild Type, WT) and G6PD-deficient (G6PDx) mice and to evaluate and visualize the collective annotation of a list of genes to Gene Ontology (GO) terms associated with favism. 29428800 2018
CUI: C0015702
Disease: Favism
Favism
0.600 Biomarker disease BEFREE In a recent review of Favism, Luzzatto and Arese state that the pathophysiology of jaundice in G6PD-deficient neonates is different from that of favism, as there is little evidence of hemolysis in these infants. 29940590 2018
CUI: C0015702
Disease: Favism
Favism
0.600 GeneticVariation disease BEFREE In our Palestinian cohort of 67 [59 males (M) and 8 females (F)] G6PD-deficient children, previously hospitalized for acute hemolytic anemia due to favism, molecular sequencing of the G6PD gene revealed four cases (3M and 1F) that did not have any of the variants known to cause G6PD deficiency, but the 3' UTR c.*+357A>G (rs1050757) polymorphism in association with IVS 11 (c.1365-13T>C; rs2071429), and c.1311C>T (rs2230037). 28059001 2017
CUI: C0015702
Disease: Favism
Favism
0.600 GeneticVariation disease BEFREE This is the first report determining a differential impact of different G6PD mutations on the clinical features of favism in the same population and the same environment. 27519946 2016
CUI: C0015702
Disease: Favism
Favism
0.600 GeneticVariation disease BEFREE Glucose-6-phosphate dehydrogenase Mediterranean mutation is one of the most common mutations causing G6PD deficiency among Egyptian children with favism. 25339475 2014
CUI: C0015702
Disease: Favism
Favism
0.600 Biomarker disease BEFREE Glucose 6-phosphate dehydrogenase (G6PD) deficiency, known as favism, is classically manifested by hemolytic anemia in human. 23640458 2013
CUI: C0015702
Disease: Favism
Favism
0.600 Biomarker disease BEFREE The role of G6PD as an antioxidant enzyme has been recognized in erythrocytes for a long time, as its deficiency is associated with neonatal jaundice, drug- or infection-mediated hemolytic crisis, favism and, less commonly, chronic non-spherocytic hemolytic anemia. 17623517 2007
CUI: C0015702
Disease: Favism
Favism
0.600 Biomarker disease BEFREE To characterize the known G6PD mutations in Thai children, molecular analysis was performed for 8 G6PD-deficient children with favism by a combination of polymerase chain reaction-restriction fragment length polymorphism analysis and amplification refractory mutation system analysis. 16513531 2006
CUI: C0015702
Disease: Favism
Favism
0.600 Biomarker disease BEFREE We performed DNA analysis on 68 G6PD deficient children, 52 school boys and 16 children with the history of favism and hemolytic anemia using a combination of PCR-RFLP technique, single strand conformation polymorphism (SSCP) analysis and DNA sequencing. 16938474 2006
CUI: C0015702
Disease: Favism
Favism
0.600 Biomarker disease CTD_human Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split. 16143877 2005
CUI: C0015702
Disease: Favism
Favism
0.600 GeneticVariation disease BEFREE Drug-induced acute hemolysis was detected in 1.8% and favism was observed in 3.6% of G6PD-deficient patients. 15727905 2005
CUI: C0015702
Disease: Favism
Favism
0.600 Biomarker disease BEFREE Favism and mild chronic hemolysis characterized the phenotype of the patient with G6PD Sumaré which contrasts with the more severe clinical picture of the patient with G6PD Utrecht and, in addition, that of the patient originally described with G6PD Sumaré. 14757424 2004
CUI: C0015702
Disease: Favism
Favism
0.600 GeneticVariation disease BEFREE A predominant variant of G6PD named Mediterranean is often associated with favism. 15957246 2004
CUI: C0015702
Disease: Favism
Favism
0.600 Biomarker disease CTD_human We analysed the G6PD gene in 74 unrelated G6PD-deficient men with a history of favism. 12028056 2002
CUI: C0015702
Disease: Favism
Favism
0.600 Biomarker disease BEFREE We analysed the G6PD gene in 74 unrelated G6PD-deficient men with a history of favism. 12028056 2002
CUI: C0015702
Disease: Favism
Favism
0.600 GeneticVariation disease BEFREE Some examples include the alanine-to-valine substitution at codon 222 (Ala222-->Val) [DNA: C-to-T substitution at nucleo-tide 677 (677C-->T)] in methylenetetrahydrofolate reductase (NADPH) and the cofactor FAD (in relation to cardiovascular disease, migraines, and rages), the Pro187-->Ser (DNA: 609C-->T) mutation in NAD(P):quinone oxidoreductase 1 [NAD(P)H dehy-drogenase (quinone)] and FAD (in relation to cancer), the Ala44-->Gly (DNA: 131C-->G) mutation in glucose-6-phosphate 1-dehydrogenase and NADP (in relation to favism and hemolytic anemia), and the Glu487-->Lys mutation (present in one-half of Asians) in aldehyde dehydrogenase (NAD + ) and NAD (in relation to alcohol intolerance, Alzheimer disease, and cancer). 11916749 2002
CUI: C0015702
Disease: Favism
Favism
0.600 GeneticVariation disease BEFREE Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism. 10571945 1999
CUI: C0015702
Disease: Favism
Favism
0.600 GeneticVariation disease BEFREE In a study of G6PD deficient patients who presented with clinical favism in Spain, we have found a new polymorphic variant that we have called G6PD Malaga, whose only abnormality is a 542 A-->T (181 Asp-->Val) mutation. 8956035 1996
CUI: C0015702
Disease: Favism
Favism
0.600 GeneticVariation disease BEFREE In nine patients who had presented with acute favism we found the following mutations: G6PD A-376G-202A (four cases), G6PD Union1360T (two cases), G6PD Mediterranean563T (one case) and G6PD Aures143C (one case). 7577654 1995
CUI: C0015702
Disease: Favism
Favism
0.600 GeneticVariation disease BEFREE The most common variants are G6PD A- (46%) and G6PD Mediterranean (23%), both of which were associated with favism. 7959686 1994
CUI: C0015702
Disease: Favism
Favism
0.600 Biomarker disease BEFREE As part of a study aiming to define the molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency, we analysed a sample from a Portugese boy with a family history of favism. 1551674 1992
CUI: C0015702
Disease: Favism
Favism
0.600 Biomarker disease BEFREE Glucose-6-phosphate dehydrogenase (G6PD) deficiency in southern Italy: a case of G6PD A(-) associated with favism. 2498187 1989
CUI: C0015702
Disease: Favism
Favism
0.600 GeneticVariation disease BEFREE In one of the commonest, G6PD Mediterranean, which is associated with favism among other clinical manifestations, a single amino acid replacement was found (serine----phenylalanine): it must be responsible for the decreased stability and the reduced catalytic efficiency of this enzyme. 3393536 1988
CUI: C0015702
Disease: Favism
Favism
0.600 Biomarker disease BEFREE To test the hypothesis that an autosomal enzyme is involved in the pathogenesis of favism, we carried out a beta-glucosidase assay in small intestine biopsies from normal subjects and G6PD deficient subjects with or without favism. 6436490 1984
CUI: C0015702
Disease: Favism
Favism
0.600 GeneticVariation disease BEFREE (4) G6PD Betica, which is the most frequent variant found in subjects of Southern Spanish origin, has been observed associated with favism in all cases except one. 7106752 1982