IDS, iduronate 2-sulfatase, 3423

N. diseases: 136; N. variants: 68
Disease: Mucopolysaccharidosis II ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569560392
rs1569560392
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		C 0.700 CausalMutation CLINVAR Decreasing activity and altered protein processing of human iduronate-2-sulfatase mutations demonstrated by expression in COS7 cells. 22990955 2012
dbSNP: rs1569560392
rs1569560392
Entrez Id: 3423
Gene Symbol: IDS
IDS
CUI: C0026705
Disease:
Mucopolysaccharidosis II 		C 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type II: an update on mutation spectrum. 17391447 2007