Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease BEFREE We now describe a baculovirus-insect cell system that yields mgs of pure human P5CS and that has proven highly valuable with two novel P5CS mutations reported here in new SPG9B patients. 31402623 2019
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease UNIPROT Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.710 CausalMutation disease CLINVAR
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.710 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: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease CTD_human
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.710 GermlineCausalMutation disease ORPHANET Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
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 GENOMICS_ENGLAND An atlas of genetic influences on human blood metabolites. 24816252 2014
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 22829427 2013
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 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
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 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 ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. 26297558 2016
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 Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. 24767728 2014
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. 24767728 2014
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		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
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. 24913064 2014
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 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 CausalMutation disease CLINVAR Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		0.700 Biomarker disease CTD_human
CUI: C1832669
Disease: SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018