IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110
Disease: Pfaundler-Hurler Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794727896
rs794727896
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		0.800 GeneticVariation UNIPROT Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase. 24036510 2013
dbSNP: rs794727896
rs794727896
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		G 0.800 GeneticVariation CLINVAR Carotid intima-media thickness is increased in patients with mucopolysaccharidoses. 21963080 2011
dbSNP: rs794727896
rs794727896
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		G 0.800 GeneticVariation CLINVAR Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H). 21253827 2011
dbSNP: rs794727896
rs794727896
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler 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: rs794727896
rs794727896
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		0.800 GeneticVariation UNIPROT 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: rs794727896
rs794727896
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		G 0.800 GeneticVariation CLINVAR Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). 17606547 2007
dbSNP: rs794727896
rs794727896
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler 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: rs794727896
rs794727896
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		0.800 GeneticVariation UNIPROT Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. 12559846 2003
dbSNP: rs794727896
rs794727896
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		G 0.800 GeneticVariation CLINVAR Usefulness of bone marrow transplantation in the Hurler syndrome. 14516901 2003
dbSNP: rs794727896
rs794727896
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler 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: rs794727896
rs794727896
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		0.800 GeneticVariation UNIPROT Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. 10466419 1999
dbSNP: rs794727896
rs794727896
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler 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: rs794727896
rs794727896
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		0.800 GeneticVariation UNIPROT Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. 7550242 1995
dbSNP: rs794727896
rs794727896
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		0.800 GeneticVariation UNIPROT Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations. 8019563 1994
dbSNP: rs794727896
rs794727896
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		0.800 GeneticVariation UNIPROT Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. 7951228 1994
dbSNP: rs794727896
rs794727896
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		0.800 GeneticVariation UNIPROT Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. 8328452 1993
dbSNP: rs794727896
rs794727896
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler 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: rs794727896
rs794727896
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
CUI: C0086795
Disease:
Pfaundler-Hurler Syndrome 		0.800 GeneticVariation UNIPROT alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. 1301941 1992