ARSB, arylsulfatase B, 411

N. diseases: 96; N. variants: 128
Disease: Leukodystrophy, Metachromatic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.100 CausalMutation disease CLINVAR Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. 23557332 2013
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.100 CausalMutation disease CLINVAR Attenuated mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) due to homozygosity for the p.Y210C mutation in the ARSB gene. 21514195 2011
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.100 CausalMutation disease CLINVAR Mutational analysis of 105 mucopolysaccharidosis type VI patients. 17458871 2007
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.100 CausalMutation disease CLINVAR Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients. 16435196 2005
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.100 GeneticVariation disease CLINVAR Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome. 8723688 1996
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.100 CausalMutation disease CLINVAR Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. 8116615 1994
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.100 CausalMutation disease CLINVAR Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity. 1550123 1992