SGSH, N-sulfoglucosamine sulfohydrolase, 6448

N. diseases: 80; N. variants: 69
Disease: beta-Mannosidosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		0.010 GeneticVariation disease BEFREE Cell fusions were performed to investigate the possible involvement of different gene mutations in five patients with isolated beta-mannosidosis and a patient with a combined deficiency of beta-mannosidase and heparin sulphate sulphamidase. 1861455 1991