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