Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome
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
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome
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
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome
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
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome
0.700 Biomarker disease GENOMICS_ENGLAND De Barsy syndrome: a review of the phenotype. 18388779 2008
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome
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
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome
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
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome
0.700 GeneticVariation disease CLINVAR
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome
0.700 Biomarker disease CTD_human
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
0.700 Biomarker disease CTD_human
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3
0.600 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3
0.600 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
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3
0.600 CausalMutation disease CLINVAR ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. 26297558 2016
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3
0.600 CausalMutation disease CLINVAR Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3
0.600 GeneticVariation disease UNIPROT Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. 26320891 2015
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3
0.600 Biomarker disease GENOMICS_ENGLAND Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. 26320891 2015
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3
0.600 Biomarker disease GENOMICS_ENGLAND Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. 24913064 2014
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3
0.600 Biomarker disease GENOMICS_ENGLAND Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 22829427 2013
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3
0.600 Biomarker disease GENOMICS_ENGLAND De Barsy syndrome: a review of the phenotype. 18388779 2008
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant
0.510 GeneticVariation disease BEFREE This is the first report of an individual with ALDH18A1-ADCL due to a substitution at a residue other than p.Arg138. 28228640 2017
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant
0.510 GermlineCausalMutation disease ORPHANET Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. 26320891 2015
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant
0.510 Biomarker disease CTD_human
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.300 Biomarker disease CTD_human c-Myc targeted regulators of cell metabolism in a transgenic mouse model of papillary lung adenocarcinoma. 27602772 2016
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.140 GeneticVariation disease BEFREE Mutations in ALDH18A1 can cause autosomal recessive and dominant hereditary spastic paraplegia and autosomal recessive and dominant cutis laxa. 29754261 2018
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.140 GeneticVariation disease BEFREE Cyclic vomiting has never been reported in other ALDH18A1-related CL patients. 26829900 2016