ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Disease: Neurodegenerative Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.030 Biomarker group BEFREE Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of copper deficiency. 26747866 2016
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.030 GeneticVariation group BEFREE Disordered copper metabolism is also associated with other neurological conditions, including a subtype of axonal neuropathy due to ATP7A mutations and the late-onset neurodegenerative disorders Alzheimer's disease and Parkinson's disease. 25496901 2015
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.030 AlteredExpression group BEFREE ATP7A transfers the copper cofactor to metalloenzymes within the secretory pathway; inactivation of ATP7A results in an untreatable neurodegenerative disorder, Menkes disease. 21646353 2011