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 Hunter syndrome (Mucopolysaccharidosis type II) is a rare X-linked recessive lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS). 12794697

2003

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. Online. 10447264

1999

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 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 have performed a molecular and mutation analysis of a total 19 unrelated MPS II patients of different ethnic origin and identified 19 different IDS mutations, 9 of which were novel and unique. 10671065

1998

Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
1.000 GeneticVariation UNIPROT Mucopolysaccharidosis type II (Hunter syndrome; OMIM 309900) is a rare X-linked recessive lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS; EC 3.1.6.13). 11731225

2001

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 Mutations in the gene encoding the enzyme iduronate-2-sulfatase (IDS) were reported as the cause of the X-linked recessive lysosomal disease, mucopolysaccharidosis II (MPS II). 16699754

2006

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 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 Expression of five iduronate-2-sulfatase site-directed mutations. 10838181

2000

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 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 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

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 In this study, we investigated mutations of the IDS gene in 25 Korean Hunter syndrome patients. 12655569

2003

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 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 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 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 basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations. 11683780

2001

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 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 Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients. 9222763

1997