Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
0.700 Biomarker disease CTD_human
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 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
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
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 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018