Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
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
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
0.700 GeneticVariation disease UNIPROT Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
0.700 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
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
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
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
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
0.700 Biomarker disease CTD_human
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
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
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
0.700 CausalMutation disease CLINVAR Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
0.700 GermlineCausalMutation disease ORPHANET Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. 26026163 2015
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
0.700 GermlineCausalMutation disease ORPHANET ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. 26297558 2016