IDS, iduronate 2-sulfatase, 3423

N. diseases: 136; N. variants: 68
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993946
rs113993946
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		T 0.810 CausalMutation CLINVAR Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome. 25681085 2015
dbSNP: rs113993946
rs113993946
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.810 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396 2014
dbSNP: rs113993946
rs113993946
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.810 GeneticVariation UNIPROT Clinical utility gene card for: mucopolysaccharidosis type II. 21863056 2012
dbSNP: rs113993946
rs113993946
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		T 0.810 CausalMutation CLINVAR Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome. 18500569 2008
dbSNP: rs113993946
rs113993946
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		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
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		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
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		T 0.810 CausalMutation CLINVAR Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease). 9875019 1998
dbSNP: rs113993946
rs113993946
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		T 0.810 CausalMutation CLINVAR Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients. 9222763 1997
dbSNP: rs113993946
rs113993946
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.810 GeneticVariation BEFREE In a sequence analysis of the iduronate-2-sulfatase gene, evidence was obtained for the R468Q (G1403 to A) mutation, a common one in Hunter disease. 9375851 1997
dbSNP: rs113993946
rs113993946
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.810 GeneticVariation BEFREE These findings strongly suggest that the severe form of Hunter disease in this girl was the result of selective expression of the maternal allele carrying the missense mutation R468Q, which in turn resulted from skewed X inactivation of the paternal nonmutant X chromosome. 9375851 1997
dbSNP: rs113993946
rs113993946
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		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
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		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
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		T 0.800 CausalMutation CLINVAR Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II. 27351199 2017
dbSNP: rs1557340280
rs1557340280
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		A 0.800 CausalMutation CLINVAR Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome. 28077157 2017
dbSNP: rs199422231
rs199422231
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		A 0.800 CausalMutation CLINVAR Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome. 28077157 2017
dbSNP: rs199422231
rs199422231
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		A 0.800 CausalMutation CLINVAR Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II. 27351199 2017
dbSNP: rs1557340280
rs1557340280
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		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
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396 2014
dbSNP: rs104894856
rs104894856
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396 2014
dbSNP: rs104894861
rs104894861
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396 2014
dbSNP: rs113993949
rs113993949
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396 2014
dbSNP: rs1557340280
rs1557340280
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396 2014
dbSNP: rs193302911
rs193302911
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396 2014
dbSNP: rs199422228
rs199422228
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396 2014
dbSNP: rs199422229
rs199422229
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America. 25071396 2014