G6PD
HGNC:4057 · 83 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | G6PD | “Hemoglobin SE (HbSE) disease is a rare hemoglobinopathy that may be associated with significant clinical complications despite its traditional characterization as a mild condition, and concomitant glucose-6-phosphate dehydrogenase (G6PD) deficiency can further complicate diagnosis and management.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Neonatal Screening for Glucose-6-Phosphate Dehydrogenase (G6PD) Gene Variants and Their Association With Hyperbilirubinemia and Phototherapy Needs.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, predisposing individuals to acute hemolytic anemia upon oxidative stress.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “OBJECTIVE: To characterise quantitative glucose-6-phosphate dehydrogenase (G6PD) activity in term and preterm neonates, compare activity by gestational age (GA) and sex and derive neonatal screening cut-offs using percentile and WHO methods.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Spectrum of glucose-6-phosphate dehydrogenase (G6PD) mutations and trends in hemoglobin levels among adult dengue patients in Thailand.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “BackgroundGlucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic enzymatic disorder that affects millions of people worldwide and characterized by hemolysis under oxidative stress.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Functional assays, including cell proliferation, cell cycle analysis, ROS measurement, glycolysis assessment, and G6PD activity, were performed to evaluate the effects of KDM1A inhibition.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme that protects red blood cells, and its deficiency can cause hemolytic anemia when triggered by certain factors.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Public Knowledge, Attitudes, and Preventive Practices Toward G6PD Deficiency in Al-Kharj, Saudi Arabia: A Community-Based Cross-Sectional Study.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “OBJECTIVES: This study aimed to determine the prevalence of total blood cell abnormalities, hemoglobinopathies and G6PD deficiency and evaluate the efficacy of red blood cell (RBC) indices, mentzer index (MI) and naked-eye single tube red cell osmotic fragility (NESTROF) test as screening tools for diagnosis of β thalassemia trait among Yemeni blood donors.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “The most common variants identified were of HBA, HBB, CYP21A2, and G6PD genes.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “OBJECTIVES: To investigate the rate of hospitalized neonates with glucose-6-phosphate dehydrogenase (G6PD) deficiency presented with indirect hyperbilirubinemia at a private tertiary center in Al-Ahsa, Saudi Arabia, over 4 years and to compare the characteristics of G6PD-deficient and normal neonates admitted for indirect hyperbilirubinemia.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Computational analysis of dimer G6PD structure to elucidate pathogenicity of G6PD variants.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Genetic analysis and molecular basis of G6PD deficiency among malaria patients in Thailand: implications for safe use of 8-aminoquinolines.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Joint quantile disease mapping with application to malaria and G6PD deficiency.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Introduction Glucose-6-phosphate dehydrogenase deficiency (G6PD) is recognized as the most common enzyme disorder globally, impacting over 400 million individuals.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Glucose-6-phosphate dehydrogenase (G6PD) insufficiency is a common enzymatic defect worldwide; it affects over 400 million people and is associated with various disorders.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “A computational study of structural analysis of Class I human glucose-6-phosphate dehydrogenase (G6PD) variants: Elaborating the correlation to chronic non-spherocytic hemolytic anemia (CNSHA).” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common metabolic disorder affecting more than 400 million individuals worldwide.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “In addition, it showed a combined diagnosis of AR HS and CDA type II, a combined diagnosis of AR HS and PKD, and a combined diagnosis of dehydrated stomatocytosis (DHS) and G6PD carrier, meanwhile 20 % remained undiagnosed.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “OBJECTIVE: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, Thalassemia (THL), and Sickle cell anemia (SCA) are the most common inherited hematologic diseases globally.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Case 1 describes a 3-year-old boy who was diagnosed with AGS at the age of 2 weeks, manifesting as a prominent forehead, deep-set eyes, pointed chin, and butterfly-shaped vertebrae, along with coarctation of the aorta, peripheral branch pulmonary artery stenosis, direct hyperbilirubinemia, cholestasis, and G6PD deficiency.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency disorder affecting over 400 million individuals worldwide.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “This review aimed to investigate the effect of polymorphisms of G6PD, GCLC, GCLM, GSS, GST, GSR, HK and GLRX genes on clopidogrel during phase II metabolism through exploring previous studies.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited metabolic abnormality of red blood cells (RBCs), affecting 400 million individuals worldwide.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “The majority of variants were present in VWF, followed by F5, F8, and G6PD genes, while FGG, FGB, and HBA1 had the lowest number of variants.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Role of glucose 6-phosphate dehydrogenase (G6PD) deficiency and its association to Autism Spectrum Disorders.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “This preliminary study was designed to assess serum AFB1 levels in neonatal jaundice (NNJ) secondary to glucose-6-phosphate dehydrogenase (G6PD) deficiency.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “G6PD deficiency in the COVID-19 pandemic: Ghost within Ghost.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “This report describes the 8-month clinical course of a 17-year-old male with G6PD deficiency who presented with intermittent high fever of unknown origin for 8 months accompanied by pancytopenia and bilateral lower limb weakness.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Development of allelic discrimination assay to detect Mediterranean G6PD mutation and its linked inheritance with normal vision and/colorblindness loci for 4 generations among Egyptian and Emirati families.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “We present here, anaesthesia management of a patient having glucose-6-phosphate dehydrogenase (G6PD) deficiency who underwent thyroidectomy.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “However, naphthalene can be toxic, especially in individuals with underlying conditions such as glucose-6-phosphate-dehydrogenase (G6PD) deficiency.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “We report a case of a 17-year-old boy, who had previously been diagnosed with SCD and glucose-6-phosphate dehydrogenase (G6PD) deficiency and recently presented to our hospital with spontaneous subgaleal hematoma (SGH), which was managed conservatively.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Exclusion Criteria • Patients who are pregnant or breastfeeding. • Will be transferred to a non-study site hospital or discharged from hospital within 72 hours. • Known sensitivity/allergy to hydroxychloroquine or Favipiravir • Current use of hydroxychloroquine for another indication • Prior diagnosis of retinopathy • Prior diagnosis of glucose-6-phosphate dehydrogenase (G6PD) deficiency • Major comorbidities increasing the risk of study drug including: i.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Although acute hemolytic crises are usually induced by the exposure to certain oxidative stresses, diabetic ketoacidosis may also elicit hemolytic reactions in G6PD deficient persons.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “G6PD deficiency is not an uncommon cause of pigment nephropathy.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Antibody responses to P. falciparum Apical Membrane Antigen 1(AMA-1) in relation to haemoglobin S (HbS), HbC, G6PD and ABO blood groups among Fulani and Masaleit living in Western Sudan.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked disorder which causes neonatal jaundice in most cases, and under certain conditions, can cause a spectrum of hemolytic manifestations.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “BACKGROUND: The use of cord blood in the neonatal screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency is being done with increasing frequency but has yet to be adequately evaluated against the use of peripheral blood sample which is usually employed for confirmation.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “BACKGROUND: The association between diabetes and G6PD deficiency is still a matter of debate.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “The most prevalent risk factor (41.9%) was G6PD deficiency, which occurred in 11 of the 15 neonates with a serum bilirubin level ≥427 μmol/l.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “A 33-week gestation boy with Mediterranean glucose-6-phosphate dehydrogenase (G6PD) and a glutathione S-transferase Mu 1 null mutations (GSTM1*0/*0) developed prolonged indirect hyperbilirubinemia (PIH).” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Classically, genetically decreased bilirubin conjugation and/or hemolysis account for the mechanisms contributing to neonatal hyperbilirubinemia associated with glucose-6-phosphate dehydrogenase (G6PD) deficiency.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Yet, in African Americans, the X-linked G6PD G202A variant (T-allele frequency 11%) was associated with an absolute decrease in HbA1c of 0.81%-units (95% CI 0.66-0.96) per allele in hemizygous men, and 0.68%-units (95% CI 0.38-0.97) in homozygous women.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Next generation sequencing (NGS) in glucose-6-phosphate dehydrogenase (G6PD) deficiency studies.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Al-Qahtani, Saif Ahmad P97 Identification of drug lead molecule against vp35 protein of Ebola virus: An In-Silico approach Iftikhar AslamTayubi, Manish Tripathi, Syed Asif Hassan, Rahul Shrivastava P98 An approach to personalized medicine from SNP-calling through disease analysis using whole exome-sequencing of three sub-continental populations Iftikhar A Tayubi, Syed Hassan, Hamza A.S Abujabal P99 Low versus high frequency of Glucose –6 – Phosphate Dehydrogenase (G6PD) deficiency in urban against tribal population of Gujarat – A signal to natural selection Ishani Shah, Bushra Jarullah, Mohammad S Jamal, Jummanah Jarullah P100 Spontaneous preterm birth and single nucleotide gene polymorphisms: a recent update Ishfaq A Sheikh, Ejaz Ahmad, Mohammad S Jamal, Mohd Rehan, Muhammad Abu-Elmagd, Iftikhar A Tayubi, Samera F AlBasri, Osama S Bajouh, Rola F Turki, Adel M Abuzenadah, Ghazi A Damanhouri, Mohd A Beg, Mohammed Al-Qahtani P101 Prevalence of congenital heart diseases among Down syndrome cases in Saudi Arabia: role of molecular genetics in the pathogenesis Sahar AF Hammoudah, Khalid M AlHarbi, Lama M El-Attar, Ahmed MZ Darwish P102 Combinatorial efficacy of specific pathway inhibitors in breast cancer cells Sara M Ibrahim, Ashraf Dallol, Hani Choudhry, Adel Abuzenadah, Jalaludden Awlia, Adeel Chaudhary, Farid Ahmed, Mohammed Al-Qahtani P103 MiR-143 and miR-145 cluster as potential replacement medicine for the treatment of cancer Mohammad A Jafri, Muhammad Abu-Elmagd, Mourad Assidi, Mohammed Al-Qahtani P104 Metagenomic profile of gut microbiota during pregnancy in Saudi population Imran khan, Muhammad Yasir, Esam I.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “PRESENTATION OF CASE: we herein report the first report of comorbidity of PKAN, β-thalassemia-major, sickle cell and glucose-6-phosphate dehydrogenase deficiency (G6PD) anemias in a 9 years old Saudi female patient who presented with gait disturbance, speech difficulty, and progressive movement disorders of the neck, upper and lower limbs.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “OBJECTIVES: To investigate the role of amino acid substitution variants Q192R and C698T in the development of glucose-6-phosphate dehydrogenase (G6PD) deficiency in a Saudi male population.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “OBJECTIVES: To estimate the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among Saudi men, and to establish the frequency of the two mutations/polymorphisms associated with the G6PD A- mutation--G to A at nucleotide 202 (G202A) and A to G at nucleotide 376 (A376G)--in those found to have G6PD deficiency.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “The role of erythrocyte enzyme glucose-6-phosphate dehydrogenase (G6PD) deficiency in the pathogenesis of anemia in patients on hemodialysis.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Laboratory workup at steady state included complete blood count, reticulocytes, serum bilirubin, lactate dehydrogenase (LDH), G6PD level, and hemoglobin (Hb) electrophoresis.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “BACKGROUND: Previous studies have reported the lower reference limit (LRL) of quantitative cord glucose-6-phosphate dehydrogenase (G6PD), but they have not used approved international statistical methodology.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Insertion/Deletion polymorphisms do play any role in G6PD deficiency individuals in the Kingdom of the Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “G6PD deficiency prevalence and estimates of affected populations in malaria endemic countries: a geostatistical model-based map.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Blood tests were obtained during steady state and included: complete blood count, reticulocytes, hemoglobin electrophoresis, lactate dehydrogenase, and G6PD level.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “14.8% were glucose 6 phosphate dehydrogenase (G6PD) deficiency was present in 14.8%, and 10.4% had A, B or O blood group (ABO) incompatibilities with their mothers.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “The UAE has high frequencies of blood disorders including thalassemias, sickle cell disease, and G6PD.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “OBJECTIVE: To study the clinical and laboratory characteristics of hyperbilirubinemia in glucose-6-phosphate dehydrogenase (G6PD)-deficient male newborns from Al-Ahsa area (Ahsais).” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Their medical records were reviewed for: age at treatment, sex, body mass index, Hb level at the start of therapy and on follow-up, hemoglobin electrophoresis, liver function tests, G6PD level, LDH, bilirubin, HCV-RNA viral load, HCV genotype, liver biopsy, duration of treatment, and side effects.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “BACKGROUND AND AIMS: Blood donation from glucose-6-phosphate dehydrogenase (G6PD)-deficient and sickle cell trait (SCT) donors might alter the quality of the donated blood during processing, storage or in the recipient's circulatory system.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “G6PD Mediterranean S188F codon mutation is common among Saudi sickle cell patients and increases the risk of stroke.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme, playing an important role in the redox metabolism of all aerobic cells.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “G6PD deficiency in autism: a case-series from Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Clinical features, CBC, Hb-electrophoresis, G6PD activity, cultures, chest X-ray, arterial oxygen saturation, blood transfusion rates and outcome were studied.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “OBJECTIVE: To determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the population tested, and to evaluate the prevalence of neonatal jaundice in newborns with G6PD deficiency.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a possible risk factor for the development of preeclampsia.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency had a high prevalence in Oman, being 25 per cent in males and 10 per cent in females.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Regional experience with newborn screening for sickle cell disease, other hemoglobinopathies and G6PD deficiency.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “The estimated abnormalities for this population of children were as follows: anemia 36.1%; iron deficiency anemia 9.9%; glucose-6-phosphate dehydrogenase (G6PD) deficiency 9.1%; sickle cell trait 4.6%; and beta thalassemia 8.7%.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “The level of activity of the enzyme glucose-6-phosphate dehydrogenase (G6PD) was determined in 154 unrelated Saudi males and females with G6PD deficiency who were residing in the Eastern Province of Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Concurrent glucose-6-phosphate dehydrogenase (G6PD) deficiency was seen in 28.2% of patients.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “The screening for G6PD deficiency revealed a high prevalence of 30.6% and 14.7% in Qatif and Al Hasa.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Sickle cell disease in Bahrain: coexistence and interaction with glucose-6-phosphate dehydrogenase (G6PD) deficiency.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Neonatal jaundice in Saudi newborns with G6PD Aures.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Plasma fructosamine, total proteins and albumin were estimated in a group of 77 sickle cell anaemia and 32 glucose-6-phosphate dehydrogenase (G6PD)-deficient Saudi Arabs and the results compared with those obtained in a group of 30 normal controls.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Infants with the severe variant of glucose-6-phosphate dehydrogenase (G6PD) deficiency may develop hyperbilirubinaemia sufficiently severe to cause kernicterus and death, acute haemolysis on exposure to oxidant stress, congenital non-spherocytic haemolytic anaemia and, rarely, increased susceptibility to bacterial infection.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “High incidence of G6PD deficiency has been reported in areas of the eastern province of Saudi Arabia where sickle cell gene is also prevalent.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Sickle cell trait and G6PD deficiency in blood donors in eastern Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “This study was conducted on 429 blood samples collected from Saudi males and females from Al-Ula in the north-western province of Saudi Arabia in order to determine the frequency of the sickle cell gene, glucose-6-phosphate dehydrogenase (G6PD) deficiency gene, and alpha- and beta-thalassaemia genes, and to investigate the pattern of their interactions.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “Percentage glycosylated haemoglobin in normal, G6PD deficient and HbSS Saudi Arabs.” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “A total of 1,112 randomly selected Saudi Arabs, of both sexes, living in Jeddah and the surrounding areas were screened for the phenotypic distribution of red cell glucose-6-phosphate dehydrogenase (G6PD) and 6-phosphogluconate dehydrogenase (6PGD).” | 0.98 | hgnc_dict_v1 |
| gene | G6PD | “A previous survey for glucose-6-phosphate dehydrogenase (G6PD) deficiency among the Saudi Arab population residing along the Persian Gulf perimeter revealed a high frequency of the enzyme defect among subjects from oasis areas.” | 0.98 | hgnc_dict_v1 |