ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
Disease: Dystonia Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.010 GeneticVariation group BEFREE ATP7B mutations do not segregate with the dystonia phenotype, indicating two independent genetic diseases in this family. 21956287 2011