Disease: De Barsy syndrome ×
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 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