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: rs1340421020
rs1340421020
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		T 0.700 CausalMutation CLINVAR Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru. 27896125 2014
dbSNP: rs1340421020
rs1340421020
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		T 0.700 CausalMutation CLINVAR Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis. 21480867 2012
dbSNP: rs1340421020
rs1340421020
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		T 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. 7550242 1995