ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
Disease: Poisoning syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0302332
Disease: Poisoning syndrome
Poisoning syndrome 		0.060 GeneticVariation disease BEFREE Veterinarians can test for the ATP7B gene mutation to identify Labrador Retrievers at risk for copper toxicosis so that they can take steps to prevent development of copper-associated chronic hepatitis in their patients. 31062085 2019
CUI: C0302332
Disease: Poisoning syndrome
Poisoning syndrome 		0.060 GeneticVariation disease BEFREE ATP7B is a target of several hundred mutations that lead to Wilson disease, a chronic copper toxicosis. 29330485 2018
CUI: C0302332
Disease: Poisoning syndrome
Poisoning syndrome 		0.060 Biomarker disease BEFREE We identified the Labrador retriever as the first natural, non-rodent model for ATP7B-associated copper toxicosis. 26747866 2016
CUI: C0302332
Disease: Poisoning syndrome
Poisoning syndrome 		0.060 GeneticVariation disease BEFREE Genetic analysis identified a compound heterozygosity of ATP7B responsible for the primary copper toxicosis of Wilson disease without mutations in HFE. 17182432 2007
CUI: C0302332
Disease: Poisoning syndrome
Poisoning syndrome 		0.060 Biomarker disease BEFREE ATP7B interacts with COMMD1, a protein that is deleted in Bedlington terriers with hereditary copper toxicosis. 17919502 2007
CUI: C0302332
Disease: Poisoning syndrome
Poisoning syndrome 		0.060 Biomarker disease BEFREE This review of the copper-iron interaction in Wilson's disease was mainly based on ten patients (three females and seven males) studied in our institutes because the genetic tests of ATP7B for Wilson's disease of primary copper toxicosis and HFE for hemochromatosis, the biochemical parameters of copper and iron, and morphological studies on biopsied liver specimens were complete. 16998622 2006