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: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations. 11683780 2001
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome). 7728156 1995
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients. 9222763 1997
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. 10215411 1998
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II). 7981716 1994
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT "Mucopolysaccharidosis type II (Hunter syndrome): mutation ""hot spots"" in the iduronate-2-sulfatase gene." 8940265 1996
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene. 7887413 1995
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: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome. 8566953 1996
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). 1303211 1992
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression. 1284597 1992
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome. 7599640 1995
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: mucopolysaccharidosis type II. 21863056 2012
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients. 9921913 1998
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease). 9501270 1998
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Hunter disease in the Spanish population: molecular analysis in 31 families. 9762601 1998
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts. 16699754 2006
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Expression of five iduronate-2-sulfatase site-directed mutations. 10838181 2000
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele. 9375851 1997
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients. 7581397 1995
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II. 11731225 2001
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Mutation analysis of Jewish Hunter patients in Israel. 7866405 1994
dbSNP: rs104894853
rs104894853
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894856
rs104894856
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104894856
rs104894856
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		0.800 GeneticVariation UNIPROT Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II). 7981716 1994