ALDH18A1, aldehyde dehydrogenase 18 family member A1, 5832
N. diseases: 206; N. variants: 22
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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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 | |||||||
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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 | |||||||
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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 | |||||||
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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 | ||||||
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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 | ||||||
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0.700 | GeneticVariation | UNIPROT | Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. | 26026163 | 2015 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. | 26026163 | 2015 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. | 26026163 | 2015 | ||||||
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0.700 | GeneticVariation | UNIPROT | Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. | 24767728 | 2014 | |||||||
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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 | |||||||
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0.700 | GeneticVariation | UNIPROT | A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. | 18478038 | 2008 | |||||||
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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 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR |