Disease: Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856603
Disease: Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1856603
Disease: Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to 		0.700 GermlineCausalMutation disease ORPHANET Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin. 18024385 2007
CUI: C1856603
Disease: Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to 		0.700 GeneticVariation disease UNIPROT A novel missense mutation in the gamma-glutamylcysteine synthetase catalytic subunit gene causes both decreased enzymatic activity and glutathione production. 12663448 2003
CUI: C1856603
Disease: Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to 		0.700 GeneticVariation disease UNIPROT A missense mutation in the heavy subunit of gamma-glutamylcysteine synthetase gene causes hemolytic anemia. 10733484 2000
CUI: C1856603
Disease: Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to 		0.700 GeneticVariation disease UNIPROT The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency. 10515893 1999
CUI: C1856603
Disease: Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to 		0.700 Biomarker disease GENOMICS_ENGLAND The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency. 10515893 1999
CUI: C1856603
Disease: Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to 		0.700 GermlineCausalMutation disease ORPHANET The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency. 10515893 1999
CUI: C1856603
Disease: Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to 		0.700 Biomarker disease GENOMICS_ENGLAND Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency. 8634459 1996
CUI: C1856603
Disease: Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1856603
Disease: Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to 		0.700 Biomarker disease CTD_human
CUI: C1856603
Disease: Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to 		0.700 CausalMutation disease CLINVAR