rs148881970, NAGLU

N. diseases: 22
Disease: MPS III B ×
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MPS III B
CUI: C0086648
Disease: MPS III B
0.700 CausalMutation CLINVAR Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB. 26907177 2016
MPS III B
CUI: C0086648
Disease: MPS III B
0.700 CausalMutation CLINVAR Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III. 25256447 2015
MPS III B
CUI: C0086648
Disease: MPS III B
0.700 CausalMutation CLINVAR A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions. 21712855 2012
MPS III B
CUI: C0086648
Disease: MPS III B
0.700 CausalMutation CLINVAR Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia. 20040070 2010
MPS III B
CUI: C0086648
Disease: MPS III B
0.700 CausalMutation CLINVAR Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. 20852935 2010
MPS III B
CUI: C0086648
Disease: MPS III B
0.700 CausalMutation CLINVAR Genotype-phenotype correspondence in Sanfilippo syndrome type B. 9443875 1998
MPS III B
CUI: C0086648
Disease: MPS III B
0.700 GeneticVariation CLINVAR