Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
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
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
0.710 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
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
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
0.710 GeneticVariation disease UNIPROT Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
0.710 GermlineCausalMutation disease ORPHANET Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
0.710 CausalMutation disease CLINVAR
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
0.710 Biomarker disease CTD_human