Gene: NAGLU ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746006696
rs746006696
NAGLU
T 0.700 CausalMutation CLINVAR Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. 25818867

2015
dbSNP: rs752131463
rs752131463
NAGLU
T 0.700 CausalMutation CLINVAR Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. 25818867

2015
dbSNP: rs746006696
rs746006696
NAGLU
T 0.700 CausalMutation CLINVAR Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. 21204211

2011
dbSNP: rs752131463
rs752131463
NAGLU
T 0.700 CausalMutation CLINVAR Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. 21204211

2011
dbSNP: rs746006696
rs746006696
NAGLU
T 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. 20852935

2010
dbSNP: rs752131463
rs752131463
NAGLU
T 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. 20852935

2010
dbSNP: rs746006696
rs746006696
NAGLU
T 0.700 CausalMutation CLINVAR Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. 15933803

2005
dbSNP: rs752131463
rs752131463
NAGLU
T 0.700 CausalMutation CLINVAR Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. 15933803

2005