Disease: Multiple Sulfatase Deficiency Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268263
Disease: Multiple Sulfatase Deficiency Disease
Multiple Sulfatase Deficiency Disease 		0.010 Biomarker disease BEFREE Based on these findings, whole exome sequencing was performed, leading to the detection of two novel deleterious variants in the gene coding for methionine synthase, confirming the diagnosis of MSD. 28210839 2017