ATOX1, antioxidant 1 copper chaperone, 475

N. diseases: 40; N. variants: 1
Disease: Chronic anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0581384
Disease: Chronic anemia
Chronic anemia 		0.010 GeneticVariation disease BEFREE We screened for ATOX1 mutations in two patients with classical Menkes disease phenotypes and one individual with occipital horn syndrome who had no alterations detected in ATP7A, as well as an adult female with chronic anemia, low serum copper and evidence of mild dopamine-beta-hydroxylase deficiency and no alterations in the ATOX1 coding or splice junction sequences were found. 12594858 2003