IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110
Disease: Hurler-Scheie Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965027
rs121965027
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086431
Disease:
Hurler-Scheie Syndrome 		0.800 GeneticVariation UNIPROT 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: rs121965027
rs121965027
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086431
Disease:
Hurler-Scheie Syndrome 		0.800 GeneticVariation UNIPROT Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. 15300847 2004
dbSNP: rs121965027
rs121965027
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086431
Disease:
Hurler-Scheie Syndrome 		0.800 GeneticVariation UNIPROT Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. 12559846 2003
dbSNP: rs121965027
rs121965027
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086431
Disease:
Hurler-Scheie Syndrome 		0.800 GeneticVariation UNIPROT Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S. 10735634 2000
dbSNP: rs121965027
rs121965027
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086431
Disease:
Hurler-Scheie Syndrome 		0.800 GeneticVariation UNIPROT Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. 10466419 1999
dbSNP: rs121965027
rs121965027
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086431
Disease:
Hurler-Scheie Syndrome 		0.800 GeneticVariation UNIPROT Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). 7550232 1995
dbSNP: rs121965027
rs121965027
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086431
Disease:
Hurler-Scheie Syndrome 		0.800 GeneticVariation UNIPROT Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. 7550242 1995
dbSNP: rs121965027
rs121965027
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086431
Disease:
Hurler-Scheie Syndrome 		0.800 GeneticVariation UNIPROT Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene. 8401515 1993
dbSNP: rs121965027
rs121965027
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086431
Disease:
Hurler-Scheie Syndrome 		C 0.800 CausalMutation CLINVAR