ALDH18A1
0.700
Biomarker
disease
GENOMICS_ENGLAND
Mitochondrial medicine in the omics era.
29903433
2018
ALDH18A1
0.700
Biomarker
disease
GENOMICS_ENGLAND
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
26297558
2016
ALDH18A1
0.700
CausalMutation
disease
CLINVAR
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
26297558
2016
ALDH18A1
0.700
CausalMutation
disease
CLINVAR
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
26026163
2015
ALDH18A1
0.700
Biomarker
disease
GENOMICS_ENGLAND
An atlas of genetic influences on human blood metabolites.
24816252
2014
ALDH18A1
0.700
GeneticVariation
disease
UNIPROT
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
24767728
2014
ALDH18A1
0.700
Biomarker
disease
GENOMICS_ENGLAND
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
24767728
2014
ALDH18A1
0.700
Biomarker
disease
GENOMICS_ENGLAND
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.
24913064
2014
ALDH18A1
0.700
Biomarker
disease
GENOMICS_ENGLAND
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
22829427
2013
ALDH18A1
0.700
GeneticVariation
disease
UNIPROT
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
22170564
2012
ALDH18A1
0.700
Biomarker
disease
GENOMICS_ENGLAND
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).
21739576
2011
ALDH18A1
0.700
GermlineCausalMutation
disease
ORPHANET
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).
21739576
2011
ALDH18A1
0.700
Biomarker
disease
GENOMICS_ENGLAND
De Barsy syndrome: a review of the phenotype.
18388779
2008
ALDH18A1
0.700
GeneticVariation
disease
UNIPROT
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
18478038
2008
ALDH18A1
0.700
GeneticVariation
disease
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
ALDH18A1
0.700
GeneticVariation
disease
CLINVAR
ALDH18A1
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
5831
Gene Symbol:
PYCR1
PYCR1
0.010
GeneticVariation
disease
BEFREE
The findings presented here suggest a mutation screening of PYCR1 and cardiovascular survey in patients with DBS .
22052856
2011