Disease: Abnormality of copper homeostasis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4023689
Disease: Abnormality of copper homeostasis
Abnormality of copper homeostasis 		0.100 CausalMutation phenotype CLINVAR Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. 29396028 2018