Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1112321
Disease: Congenital cutis laxa
Congenital cutis laxa
0.010 GeneticVariation disease BEFREE Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. 24913064 2014