Source: CURATED

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 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 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 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 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 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 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 Biomarker CLINGEN 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 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 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 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 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 Biomarker GENOMICS_ENGLAND 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
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 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 Biomarker CLINGEN This study has demonstrated a procedure capable of detecting all types of mutation that affect the function of the IDS protein and should enable direct carrier and prenatal diagnosis for Hunter syndrome families. 1639384

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 Biomarker CTD_human