Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 537
Gene Symbol: ATP6AP1
ATP6AP1
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
Entrez Id: 537
Gene Symbol: ATP6AP1
ATP6AP1
0.110 GeneticVariation disease BEFREE Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. 18157129 2008