NAGLU, N-acetyl-alpha-glucosaminidase, 4669

N. diseases: 152; N. variants: 98
Disease: Mental deterioration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.110 Biomarker phenotype BEFREE The Sanfilippo syndrome type B is a lysosomal storage disorder caused by deficiency of alpha-N-acetylglucosaminidase; it is characterized by profound mental deterioration in childhood and death in the second decade. 8650226 1996
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.110 CausalMutation phenotype CLINVAR