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: rs772416503
rs772416503
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		G 0.700 GeneticVariation CLINVAR IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. 21394825 2011
dbSNP: rs772416503
rs772416503
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		G 0.700 CausalMutation CLINVAR IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. 21394825 2011
dbSNP: rs772416503
rs772416503
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		G 0.700 GeneticVariation CLINVAR Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. 11735025 2001
dbSNP: rs772416503
rs772416503
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		G 0.700 CausalMutation CLINVAR Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. 11735025 2001