ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
Disease: Hypocupremia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.040 GeneticVariation disease BEFREE Mutations in the genes encoding ATP7A and ATP7B lead to copper deficiency and copper toxicity disorders, Menkes and Wilson diseases, respectively. 22130675 2012
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.040 Biomarker disease BEFREE L1373 at the end of transmembrane domain 8 is required for protein stability and Golgi retention in low copper, the trileucine motif (L1454-L1456) is required for retrograde trafficking, and the COOH terminus of ATP7B exhibits a higher sensitivity to copper than does ATP7A. 21454443 2011
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.040 GeneticVariation disease BEFREE Mutations in the genes encoding ATP7A and ATP7B lead to copper deficiency and toxicity disorders, Menkes and Wilson diseases, respectively. 21242307 2011
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		0.040 GeneticVariation disease BEFREE Mutations in ATP7A or ATP7B disrupt the homeostatic copper balance, resulting in copper deficiency (Menkes disease) or copper overload (Wilson disease), respectively. 17717039 2007