Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant
0.510 Biomarker disease CTD_human
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant
0.510 GermlineCausalMutation disease ORPHANET Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. 26320891 2015
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant
0.510 GeneticVariation disease BEFREE This is the first report of an individual with ALDH18A1-ADCL due to a substitution at a residue other than p.Arg138. 28228640 2017