Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268525
Disease: 5-oxoprolinase deficiency
5-oxoprolinase deficiency
0.720 GermlineCausalMutation disease ORPHANET While several dozens of patients with glutathione synthetase deficiency have been reported, with hemolytic anemia representing the clinical key feature, 5-oxoprolinase deficiency due to OPLAH mutations is less frequent and so far has not attracted much attention. 27477828 2016
CUI: C0268525
Disease: 5-oxoprolinase deficiency
5-oxoprolinase deficiency
0.720 GeneticVariation disease BEFREE While several dozens of patients with glutathione synthetase deficiency have been reported, with hemolytic anemia representing the clinical key feature, 5-oxoprolinase deficiency due to OPLAH mutations is less frequent and so far has not attracted much attention. 27477828 2016
CUI: C0268525
Disease: 5-oxoprolinase deficiency
5-oxoprolinase deficiency
0.720 Biomarker disease GENOMICS_ENGLAND While several dozens of patients with glutathione synthetase deficiency have been reported, with hemolytic anemia representing the clinical key feature, 5-oxoprolinase deficiency due to OPLAH mutations is less frequent and so far has not attracted much attention. 27477828 2016
CUI: C0268525
Disease: 5-oxoprolinase deficiency
5-oxoprolinase deficiency
0.720 GeneticVariation disease BEFREE Here, we report the first molecularly characterized patients with 5-oxoprolinase deficiency due to a mutation in OPLAH (which encodes 5-oxoprolinase). 21651516 2012
CUI: C0268525
Disease: 5-oxoprolinase deficiency
5-oxoprolinase deficiency
0.720 GermlineCausalMutation disease ORPHANET Here, we report the first molecularly characterized patients with 5-oxoprolinase deficiency due to a mutation in OPLAH (which encodes 5-oxoprolinase). 21651516 2012
CUI: C0268525
Disease: 5-oxoprolinase deficiency
5-oxoprolinase deficiency
0.720 Biomarker disease CTD_human
CUI: C0268525
Disease: 5-oxoprolinase deficiency
5-oxoprolinase deficiency
0.720 CausalMutation disease CLINVAR