Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777295041
rs777295041
IDUA
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		G 0.700 CausalMutation CLINVAR IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I. 28752568

2017
dbSNP: rs777295041
rs777295041
IDUA
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		G 0.700 CausalMutation CLINVAR Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome. 24368159

2014
dbSNP: rs777295041
rs777295041
IDUA
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		G 0.700 CausalMutation CLINVAR An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life. 23837464

2013
dbSNP: rs777295041
rs777295041
IDUA
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		G 0.700 CausalMutation CLINVAR Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis. 21480867

2012
dbSNP: rs777295041
rs777295041
IDUA
CUI: C0023786
Disease: Mucopolysaccharidosis I
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
dbSNP: rs777295041
rs777295041
IDUA
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		G 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies. 9748610

1998
dbSNP: rs777295041
rs777295041
IDUA
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		G 0.700 CausalMutation CLINVAR Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations. 8019563

1994