ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Disease: Neurologic Manifestations ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027854
Disease: Neurologic Manifestations
Neurologic Manifestations 		0.300 Biomarker phenotype CTD_human Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC). 22815746 2012
CUI: C0027854
Disease: Neurologic Manifestations
Neurologic Manifestations 		0.300 Biomarker phenotype CTD_human Maternofetal and neonatal copper requirements revealed by enterocyte-specific deletion of the Menkes disease protein. 23064757 2012