NAGLU, N-acetyl-alpha-glucosaminidase, 4669

N. diseases: 152; N. variants: 98
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 CausalMutation disease CLINVAR Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB. 26907177 2016
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 GeneticVariation disease UNIPROT Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. 25818867 2015
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 GermlineCausalMutation disease ORPHANET Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. 25818867 2015
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 CausalMutation disease CLINVAR Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III. 25256447 2015
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 Biomarker disease GENOMICS_ENGLAND Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. 25818867 2015
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 CausalMutation disease CLINVAR Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. 25818867 2015
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 CausalMutation disease CLINVAR A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions. 21712855 2012
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 CausalMutation disease CLINVAR Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. 20852935 2010
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 CausalMutation disease CLINVAR Sanfilippo B syndrome: molecular defects in Greek patients. 14984474 2004
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 CausalMutation disease CLINVAR Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. 10094189 1999
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 CausalMutation disease CLINVAR Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. 9950362 1999
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 CausalMutation disease CLINVAR Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). 9832037 1998
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 CausalMutation disease CLINVAR Genotype-phenotype correspondence in Sanfilippo syndrome type B. 9443875 1998
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 CausalMutation disease CLINVAR NAGLU mutations underlying Sanfilippo syndrome type B. 9443878 1998
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 CausalMutation disease CLINVAR The molecular basis of Sanfilippo syndrome type B. 8650226 1996
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 GeneticVariation disease CLINVAR
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 Biomarker disease CTD_human