IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110
Disease: Mucopolysaccharidosis I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965032
rs121965032
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		T 0.700 CausalMutation CLINVAR Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families. 21734815 2011
dbSNP: rs121965032
rs121965032
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		T 0.700 CausalMutation CLINVAR A homology model for human alpha-l-iduronidase: insights into human disease. 15862278 2005
dbSNP: rs121965032
rs121965032
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		T 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. 10466419 1999
dbSNP: rs121965032
rs121965032
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		T 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families. 9391892 1997