Gene: IDS ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993946
rs113993946
IDS
T 0.810 CausalMutation CLINVAR Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome. 25681085

2015
dbSNP: rs113993946
rs113993946
IDS
0.810 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

2014
dbSNP: rs113993946
rs113993946
IDS
0.810 GeneticVariation UNIPROT Clinical utility gene card for: mucopolysaccharidosis type II. 21863056

2012
dbSNP: rs113993946
rs113993946
IDS
T 0.810 CausalMutation CLINVAR Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome. 18500569

2008
dbSNP: rs113993946
rs113993946
IDS
T 0.810 CausalMutation CLINVAR Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers. 16480701

2006
dbSNP: rs113993946
rs113993946
IDS
T 0.810 CausalMutation CLINVAR Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome). 9950361

1999
dbSNP: rs113993946
rs113993946
IDS
T 0.810 CausalMutation CLINVAR Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease). 9875019

1998
dbSNP: rs113993946
rs113993946
IDS
T 0.810 CausalMutation CLINVAR Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients. 9222763

1997
dbSNP: rs113993946
rs113993946
IDS
T 0.810 CausalMutation CLINVAR Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients. 7581397

1995
dbSNP: rs113993946
rs113993946
IDS
T 0.810 CausalMutation CLINVAR Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene. 8364592

1993
dbSNP: rs113993949
rs113993949
IDS
T 0.800 CausalMutation CLINVAR Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II. 27351199

2017
dbSNP: rs1557340280
rs1557340280
IDS
A 0.800 CausalMutation CLINVAR Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome. 28077157

2017
dbSNP: rs199422231
rs199422231
IDS
A 0.800 CausalMutation CLINVAR Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome. 28077157

2017
dbSNP: rs199422231
rs199422231
IDS
A 0.800 CausalMutation CLINVAR Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II. 27351199

2017
dbSNP: rs1557340280
rs1557340280
IDS
A 0.800 CausalMutation CLINVAR Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II. 26407519

2015
dbSNP: rs104894853
rs104894853
IDS
0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

2014
dbSNP: rs104894856
rs104894856
IDS
0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

2014
dbSNP: rs104894861
rs104894861
IDS
0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

2014
dbSNP: rs113993949
rs113993949
IDS
0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

2014
dbSNP: rs1557340280
rs1557340280
IDS
0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

2014
dbSNP: rs193302911
rs193302911
IDS
0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

2014
dbSNP: rs199422228
rs199422228
IDS
0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

2014
dbSNP: rs199422229
rs199422229
IDS
0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

2014
dbSNP: rs199422231
rs199422231
IDS
0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396

2014
dbSNP: rs199422231
rs199422231
IDS
A 0.800 CausalMutation CLINVAR Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients. 24125893

2014