ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
Disease: Fibrosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016059
Disease: Fibrosis
Fibrosis 		0.010 GeneticVariation phenotype LHGDN Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease. 17718866 2007