Gene: ALDH18A1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		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
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		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
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		0.510 Biomarker disease CTD_human