Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0520572
Disease: Enzymopathy
Enzymopathy
0.300 Biomarker group GENOMICS_ENGLAND The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency. 10515893 1999
CUI: C0520572
Disease: Enzymopathy
Enzymopathy
0.300 Biomarker group GENOMICS_ENGLAND Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency. 8634459 1996