Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434583
rs121434583
0.800 GeneticVariation UNIPROT Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. 24767728

2014

dbSNP: rs121434583
rs121434583
0.800 GeneticVariation UNIPROT Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. 22170564

2012

dbSNP: rs121434583
rs121434583
0.800 GeneticVariation UNIPROT A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. 18478038

2008

dbSNP: rs121434583
rs121434583
0.800 GeneticVariation UNIPROT Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. 11092761

2000

dbSNP: rs121434583
rs121434583
A 0.800 CausalMutation CLINVAR