Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 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

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). 1303211

1992

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 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

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome. 7599640

1995

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome). 7728156

1995

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Mutation analysis of Jewish Hunter patients in Israel. 7866405

1994

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 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

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II). 7981716

1994

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). 8281149

1993

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome. 8566953

1996

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Mutation analysis in 20 patients with Hunter disease. 8664909

1996

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons. 8830188

1996

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene. 8940265

1996

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients. 9222763

1997

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Molecular analysis in 23 Hunter disease families. 9266380

1997

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT 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

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease. 9452044

1998

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Our series of studies on Hunter disease in Japanese patients showed allelic heterogeneity of IDS gene mutations, genotype/phenotype correlation and racial differences in distribution of mutations. 9501270

1998

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. 9660053

1998

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Hunter disease in the Spanish population: molecular analysis in 31 families. 9762601

1998

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease). 9875019

1998

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients. 9921913

1998

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Mucopolysaccharidosis type II (Hunter syndrome) is an X linked lysosomal storage disorder resulting from heterogeneous mutations in the iduronate-2-sulphatase (IDS) gene. 9950361

1999

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Hunter disease (mucopolysaccharidosis type II or MPS II) is an X-linked recessive disorder caused by the deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS) (E.C.3.1.6.13.) involved in the catabolism of mucopolysaccharides dermatan sulfate and heparan sulfate. 10215411

1998

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT We sequenced genomic DNA and RT-PCR products in the iduronate sulfatase (IDS) gene in 6 unrelated patients with Hunter syndrome to assess genotype/phenotype relationships and offer carrier testing where required. 10220152

1999