G6PD, glucose-6-phosphate dehydrogenase, 2539

N. diseases: 344; N. variants: 24
Disease: Granulomatous Disease, Chronic, X-Linked ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1844376
Disease: Granulomatous Disease, Chronic, X-Linked
Granulomatous Disease, Chronic, X-Linked 		0.310 GeneticVariation disease BEFREE The X-linked form of CGD developed in this cytogenetically normal female due to the uniform inactivation of the normal X chromosome in her granulocytes, indicated by the expression in her granulocyte mRNA of only one allele of a glucose-6-phosphate dehydrogenase polymorphisms for which she is heterozygous in genomic DNA. 7949143 1994