Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021753
Disease: Abnormality of the immune system
Abnormality of the immune system
0.100 CausalMutation disease CLINVAR Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. 29396028 2018