Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Anemia, Hemolytic, Congenital Nonspherocytic
0.400 GeneticVariation disease BEFREE Mutations in the gene encoding G6PD cause the most common enzymopathy that drives hereditary nonspherocytic hemolytic anemia. 29072585 2017
Anemia, Hemolytic, Congenital Nonspherocytic
0.400 Biomarker disease CTD_human Glucose-6-phosphate dehydrogenase aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia. 10666231 2000
Anemia, Hemolytic, Congenital Nonspherocytic
0.400 GeneticVariation disease BEFREE Hereditary nonspherocytic hemolytic anemia (HNSHA) is a rare manifestation of glucose-6-phosphate dehydrogenase (G6PD) gene mutations, caused mainly by mutations located in exon 10 of the G6PD gene and less commonly by mutations in other parts of the gene. 11112389 2000
Anemia, Hemolytic, Congenital Nonspherocytic
0.400 GeneticVariation disease BEFREE All of the new mutations except for "G6PD Fushan"1004A were found in patients with hereditary nonspherocytic hemolytic anemia. 7803800 1995
Anemia, Hemolytic, Congenital Nonspherocytic
0.400 GeneticVariation disease BEFREE A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova). Biochemical characterization and mosaicism expression in the heterozygote. 2307454 1990
Anemia, Hemolytic, Congenital Nonspherocytic
0.400 GeneticVariation disease BEFREE Since sporadic variants of G6PD causing HNSHA show no special racial predilection, the diagnosis of G6PD deficiency should always be considered in patients with this syndrome. 3565372 1987
Anemia, Hemolytic, Congenital Nonspherocytic
0.400 GeneticVariation disease BEFREE G6PD-Puerto Limón: a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. 7160841 1982
Anemia, Hemolytic, Congenital Nonspherocytic
0.400 GeneticVariation disease BEFREE G6PD Varadero. A new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. 7123903 1982
Anemia, Hemolytic, Congenital Nonspherocytic
0.400 GeneticVariation disease BEFREE G6Pd Kanazawa: a new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. 6812368 1982
Anemia, Hemolytic, Congenital Nonspherocytic
0.400 GeneticVariation disease BEFREE Two large and unrelated families were investigated for hereditary nonspherocytic hemolytic anemia associated with deficiency of erythrocyte glucose-6-phosphate dehydrogenase (G6PD). 7353072 1980
Anemia, Hemolytic, Congenital Nonspherocytic
0.400 GeneticVariation disease BEFREE Gd(-) Rennes, a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia found in France. 7450748 1980
Anemia, Hemolytic, Congenital Nonspherocytic
0.400 GeneticVariation disease BEFREE G6PD San Francisco: a new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. 7353069 1980
Anemia, Hemolytic, Congenital Nonspherocytic
0.400 GeneticVariation disease BEFREE Three new electrophoretically normal glucose-6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: G6PD Ogikubo, Yokohama, and Akita. 730178 1978
Anemia, Hemolytic, Congenital Nonspherocytic
0.400 GeneticVariation disease BEFREE Two new glucose 6-phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: GD(-) Tokushima and GD(-) Tokyo. 1008056 1976
Anemia, Hemolytic, Congenital Nonspherocytic
0.400 Biomarker disease CTD_human Neutrophil dysfunction, chronic granulomatous disease, and non-spherocytic haemolytic anaemia caused by complete deficiency of glucose-6-phosphate dehydrogenase. 4125296 1973