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: rs1264013707
rs1264013707
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		A 0.700 GeneticVariation CLINVAR Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis. 21480867 2012
dbSNP: rs1264013707
rs1264013707
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		A 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