Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
0.710 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
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
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
0.710 GeneticVariation disease UNIPROT Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
0.710 GermlineCausalMutation disease ORPHANET Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
0.710 CausalMutation disease CLINVAR
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
0.710 Biomarker disease CTD_human
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome
0.700 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
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 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 CausalMutation disease CLINVAR ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. 26297558 2016
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
0.700 GeneticVariation disease UNIPROT ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. 26297558 2016
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
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
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
0.700 GermlineCausalMutation disease ORPHANET ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. 26297558 2016
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
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 CausalMutation disease CLINVAR Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
0.700 GermlineCausalMutation disease ORPHANET Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
0.700 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
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
0.700 GeneticVariation disease UNIPROT Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
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 GENOMICS_ENGLAND An atlas of genetic influences on human blood metabolites. 24816252 2014
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 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 Biomarker disease GENOMICS_ENGLAND Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 22829427 2013