Disease: Cutis Laxa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.110 CausalMutation disease CLINVAR Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. 29396028 2018
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.110 GeneticVariation disease BEFREE Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 18157129 2008