Gene: IDUA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965019
rs121965019
IDUA
A 0.740 CausalMutation CLINVAR Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I. 27511503

2016
dbSNP: rs121965019
rs121965019
IDUA
A 0.740 CausalMutation CLINVAR Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis. 24798265

2015
dbSNP: rs121965019
rs121965019
IDUA
A 0.740 CausalMutation CLINVAR Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome. 24368159

2014
dbSNP: rs121965019
rs121965019
IDUA
A 0.740 CausalMutation CLINVAR [Hurler syndrome: early diagnosis and treatment]. 24698225

2014
dbSNP: rs121965019
rs121965019
IDUA
A 0.740 CausalMutation CLINVAR Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. 22976768

2013
dbSNP: rs121965019
rs121965019
IDUA
A 0.740 CausalMutation CLINVAR Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients. 23786846

2013
dbSNP: rs121965019
rs121965019
IDUA
A 0.740 CausalMutation CLINVAR IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. 21394825

2011
dbSNP: rs121965019
rs121965019
IDUA
A 0.740 CausalMutation CLINVAR Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation. 19751987

2010
dbSNP: rs121965019
rs121965019
IDUA
0.740 GeneticVariation BEFREE The premature stop codons Q70X and W402X are two of the most common alpha-l-iduronidase gene (IDUA) mutations accounting for up to 70% of MPS I disease alleles in some populations. 15081804

2004
dbSNP: rs121965019
rs121965019
IDUA
A 0.740 CausalMutation CLINVAR Eleven different mutations including two common mutations (Q70X, W402X), five recurrent mutations (D315Y, P533R, R621X, R628X, S633L), and four novel mutations (R162I, G208D, 1352delG, 1952del25bp) were identified from MPS I patients. 12509712

2003
dbSNP: rs121965019
rs121965019
IDUA
A 0.740 CausalMutation CLINVAR Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. 11735025

2001
dbSNP: rs121965019
rs121965019
IDUA
A 0.740 CausalMutation CLINVAR Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. Online. 10215409

1998
dbSNP: rs121965019
rs121965019
IDUA
A 0.740 CausalMutation CLINVAR Mutations among Italian mucopolysaccharidosis type I patients. 9427149

1997
dbSNP: rs121965019
rs121965019
IDUA
A 0.740 CausalMutation CLINVAR Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. 8680403

1995
dbSNP: rs121965019
rs121965019
IDUA
A 0.740 CausalMutation CLINVAR Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. 7951228

1994
dbSNP: rs121965019
rs121965019
IDUA
0.740 GeneticVariation BEFREE Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. 7951228

1994
dbSNP: rs121965019
rs121965019
IDUA
A 0.740 CausalMutation CLINVAR W402X introduces a MaeI restriction endonuclease site into MPS-I alleles enabling its simple detection, which should make possible the assessment of the efficacy of bone marrow transplantation in MPS-I patients homozygous for W402X. 1301196

1992
dbSNP: rs121965019
rs121965019
IDUA
0.740 GeneticVariation BEFREE W402X introduces a MaeI restriction endonuclease site into MPS-I alleles enabling its simple detection, which should make possible the assessment of the efficacy of bone marrow transplantation in MPS-I patients homozygous for W402X. 1301196

1992
dbSNP: rs121965019
rs121965019
IDUA
0.740 GeneticVariation BEFREE We have now described three mutations, W402X (Scott et al., 1992c), Q70X, and P533R totalling 53% of MPS-I alleles which together define 28% of MPS-I genotypes. 1301941

1992
dbSNP: rs121965021
rs121965021
IDUA
0.730 GeneticVariation BEFREE This molecular study unveils the predominance of p.(Pro533Arg) variation in our MPS I patients. 27196898

2016
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
T 0.730 CausalMutation CLINVAR Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome. 24368159

2014
dbSNP: rs121965021
rs121965021
IDUA
G 0.730 CausalMutation CLINVAR Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome. 24368159

2014
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
T 0.730 CausalMutation CLINVAR The great masquerade: delayed diagnosis of mucopolysaccharidosis in adulthood. 24314423

2013
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
T 0.730 CausalMutation CLINVAR Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients. 23786846

2013
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
T 0.730 CausalMutation CLINVAR Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations. 22976768

2013