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

2014
dbSNP: rs121434583
rs121434583
ALDH18A1
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
ALDH18A1
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
ALDH18A1
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
ALDH18A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs774047299
rs774047299
ALDH18A1
0.800 GeneticVariation UNIPROT

dbSNP: rs774047299
rs774047299
ALDH18A1
C 0.800 CausalMutation CLINVAR

dbSNP: rs864321670
rs864321670
ALDH18A1
T 0.700 CausalMutation CLINVAR ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. 26297558

2016
dbSNP: rs864321670
rs864321670
ALDH18A1
T 0.700 CausalMutation CLINVAR Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163

2015
dbSNP: rs121434582
rs121434582
ALDH18A1
0.700 GeneticVariation UNIPROT Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. 24767728

2014
dbSNP: rs121434582
rs121434582
ALDH18A1
0.700 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: rs121434582
rs121434582
ALDH18A1
0.700 GeneticVariation UNIPROT A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. 18478038

2008
dbSNP: rs121434582
rs121434582
ALDH18A1
0.700 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: rs1555262375
rs1555262375
ALDH18A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555264243
rs1555264243
ALDH18A1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs2275272
rs2275272
ALDH18A1
0.700 GeneticVariation UNIPROT

dbSNP: rs537043237
rs537043237
ALDH18A1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs587777858
rs587777858
ALDH18A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs762742204
rs762742204
ALDH18A1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs863223315
rs863223315
ALDH18A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs863225045
rs863225045
ALDH18A1
A 0.700 CausalMutation CLINVAR