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 Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. 24767728 2014
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 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
A 0.800 CausalMutation CLINVAR
dbSNP: rs774047299
rs774047299
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
0.800 GeneticVariation UNIPROT
dbSNP: rs774047299
rs774047299
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
C 0.800 CausalMutation CLINVAR
dbSNP: rs864321670
rs864321670
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
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
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
T 0.700 CausalMutation CLINVAR 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 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
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: rs1555262375
rs1555262375
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555264243
rs1555264243
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs2275272
rs2275272
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
0.700 GeneticVariation UNIPROT
dbSNP: rs537043237
rs537043237
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
T 0.700 GeneticVariation CLINVAR
dbSNP: rs587777858
rs587777858
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs762742204
rs762742204
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs863223315
rs863223315
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs863225045
rs863225045
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0268354
Disease:
De Barsy syndrome
A 0.700 CausalMutation CLINVAR