ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures
0.400 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures
0.400 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