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: rs199801029
rs199801029
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		C 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: rs199801029
rs199801029
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		C 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: rs199801029
rs199801029
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		C 0.700 CausalMutation CLINVAR Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients. 23786846 2013
dbSNP: rs199801029
rs199801029
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		C 0.700 GeneticVariation CLINVAR Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients. 23786846 2013
dbSNP: rs199801029
rs199801029
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		C 0.700 CausalMutation CLINVAR IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. 21394825 2011
dbSNP: rs199801029
rs199801029
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		C 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein. 19396826 2009
dbSNP: rs199801029
rs199801029
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		C 0.700 CausalMutation CLINVAR Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. 15300847 2004
dbSNP: rs199801029
rs199801029
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		C 0.700 CausalMutation CLINVAR Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. 12559846 2003
dbSNP: rs199801029
rs199801029
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		C 0.700 CausalMutation CLINVAR Mutations among Italian mucopolysaccharidosis type I patients. 9427149 1997
dbSNP: rs199801029
rs199801029
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		C 0.700 GeneticVariation CLINVAR Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. 7550242 1995
dbSNP: rs199801029
rs199801029
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		C 0.700 CausalMutation CLINVAR Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. 8680403 1995
dbSNP: rs199801029
rs199801029
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0023786
Disease:
Mucopolysaccharidosis I 		C 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. 7550242 1995