Disease: Mucopolysaccharidosis I ×
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mucopolysaccharidosis I
CUI: C0023786
Disease: Mucopolysaccharidosis I
0.730 GeneticVariation BEFREE The premature stop codons Q70X and W402X are two of the most common alpha-l-iduronidase gene (IDUA) mutations accounting for up to 70% of MPS I disease alleles in some populations. 15081804 2004
Mucopolysaccharidosis I
CUI: C0023786
Disease: Mucopolysaccharidosis I
0.730 GeneticVariation BEFREE Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. 7951228 1994
Mucopolysaccharidosis I
CUI: C0023786
Disease: Mucopolysaccharidosis I
0.730 GeneticVariation BEFREE We have now described three mutations, W402X (Scott et al., 1992c), Q70X, and P533R totalling 53% of MPS-I alleles which together define 28% of MPS-I genotypes. 1301941 1992