GUSB, glucuronidase beta, 2990

N. diseases: 183; N. variants: 41
Disease: Mucopolysaccharidoses ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918181
rs121918181
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
CUI: C0026703
Disease:
Mucopolysaccharidoses 		0.010 GeneticVariation BEFREE Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings. 8089138 1994