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: rs886044835
rs886044835
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		T 0.700 CausalMutation CLINVAR Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome. 28077157 2017
dbSNP: rs886044835
rs886044835
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		T 0.700 CausalMutation CLINVAR Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). 1303211 1992
dbSNP: rs886044835
rs886044835
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		T 0.700 CausalMutation CLINVAR Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome. 26762690 2016
dbSNP: rs886044835
rs886044835
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		T 0.700 CausalMutation CLINVAR Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase. 27246110 2016
dbSNP: rs886044835
rs886044835
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		T 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients. 24125893 2014
dbSNP: rs886044835
rs886044835
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		T 0.700 CausalMutation CLINVAR Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations. 11683780 2001
dbSNP: rs869025308
rs869025308
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		A 0.700 CausalMutation CLINVAR
dbSNP: rs869025307
rs869025307
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		C 0.700 CausalMutation CLINVAR
dbSNP: rs869025306
rs869025306
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		G 0.700 CausalMutation CLINVAR
dbSNP: rs869025305
rs869025305
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		A 0.700 CausalMutation CLINVAR
dbSNP: rs869025304
rs869025304
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		CCAGCTATACGG 0.700 CausalMutation CLINVAR
dbSNP: rs869025303
rs869025303
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs869025302
rs869025302
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs869025301
rs869025301
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs864622779
rs864622779
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		G 0.800 CausalMutation CLINVAR
dbSNP: rs864622779
rs864622779
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: rs864622779
rs864622779
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: rs864622778
rs864622778
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		T 0.700 CausalMutation CLINVAR
dbSNP: rs864622777
rs864622777
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		T 0.700 CausalMutation CLINVAR
dbSNP: rs864622776
rs864622776
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		G 0.700 CausalMutation CLINVAR
dbSNP: rs864622775
rs864622775
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		A 0.700 CausalMutation CLINVAR
dbSNP: rs864622774
rs864622774
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		A 0.700 CausalMutation CLINVAR
dbSNP: rs864622773
rs864622773
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: rs864622773
rs864622773
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: rs864622773
rs864622773
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		C 0.800 CausalMutation CLINVAR