Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Cystathionine beta-Synthase Deficiency Disease
0.300 Biomarker disease CTD_human cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. 15714522 2005
Cystathionine beta-Synthase Deficiency Disease
0.300 Biomarker disease CTD_human CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. 12555939 2002