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: rs786200915
rs786200915
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		CCTGCT 0.700 CausalMutation CLINVAR IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I. 28752568 2017
dbSNP: rs786200915
rs786200915
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		CCTGCT 0.700 CausalMutation CLINVAR Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I. 27520059 2016
dbSNP: rs786200915
rs786200915
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		CCTGCT 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. 8664897 1996