Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434583
rs121434583
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome 		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
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome 		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
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome 		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
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome 		0.800 GeneticVariation UNIPROT Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. 24767728 2014
dbSNP: rs752669339
rs752669339
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225272
Disease:
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT
dbSNP: rs766264810
rs766264810
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		0.800 GeneticVariation UNIPROT
dbSNP: rs774047299
rs774047299
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome 		0.800 GeneticVariation UNIPROT
dbSNP: rs863224945
rs863224945
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		0.800 GeneticVariation UNIPROT
dbSNP: rs863225044
rs863225044
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225268
Disease:
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.800 GeneticVariation UNIPROT
dbSNP: rs863225045
rs863225045
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225268
Disease:
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.800 GeneticVariation UNIPROT
dbSNP: rs864321669
rs864321669
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		0.800 GeneticVariation UNIPROT Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
dbSNP: rs864321669
rs864321669
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		0.800 GeneticVariation UNIPROT ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. 26297558 2016
dbSNP: rs864321670
rs864321670
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		0.800 GeneticVariation UNIPROT ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. 26297558 2016
dbSNP: rs864321670
rs864321670
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C1832669
Disease:
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		0.800 GeneticVariation UNIPROT Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
dbSNP: rs869320690
rs869320690
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225272
Disease:
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
dbSNP: rs121434582
rs121434582
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome 		0.700 GeneticVariation UNIPROT Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. 24767728 2014
dbSNP: rs121434582
rs121434582
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome 		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
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome 		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: rs121434582
rs121434582
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome 		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: rs2275272
rs2275272
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome 		0.700 GeneticVariation UNIPROT
dbSNP: rs768323248
rs768323248
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C4225272
Disease:
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation UNIPROT Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
dbSNP: rs1365573219
rs1365573219
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268350
Disease:
Cutis Laxa, Autosomal Dominant 		0.010 GeneticVariation BEFREE We report an 8-year-old male with a clinical diagnosis of autosomal dominant cutis laxa (ADCL) with progeroid features and a novel de novo missense mutation in ALDH18A1 (NM_002860.3: c.377G>A (p.Arg126His)). 28228640 2017
dbSNP: rs4417206
rs4417206
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset 		0.010 GeneticVariation BEFREE In a recent scan of single nucleotide polymorphisms (SNPs) on chromosome 10, significant associations between the rs498055 and rs4417206 SNPs and risk of LOAD were observed. 17000046 2006
dbSNP: rs768323248
rs768323248
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268350
Disease:
Cutis Laxa, Autosomal Dominant 		0.010 GeneticVariation BEFREE We report an 8-year-old male with a clinical diagnosis of autosomal dominant cutis laxa (ADCL) with progeroid features and a novel de novo missense mutation in ALDH18A1 (NM_002860.3: c.377G>A (p.Arg126His)). 28228640 2017
dbSNP: rs121434583
rs121434583
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome 		A 0.800 CausalMutation CLINVAR