IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110
Disease: Mucopolysaccharidosis V ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965029
rs121965029
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0026708
Disease:
Mucopolysaccharidosis V 		0.730 GeneticVariation BEFREE A human iPSC line was established from an attenuated MPS I (Scheie syndrome) patient carrying an IDUA gene mutation (c.266G > A; p.R89Q). 30849633 2019
dbSNP: rs121965029
rs121965029
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0026708
Disease:
Mucopolysaccharidosis V 		0.730 GeneticVariation UNIPROT p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients. 25256405 2015
dbSNP: rs121965029
rs121965029
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0026708
Disease:
Mucopolysaccharidosis V 		0.730 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: rs121965029
rs121965029
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0026708
Disease:
Mucopolysaccharidosis V 		0.730 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: rs121965029
rs121965029
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0026708
Disease:
Mucopolysaccharidosis V 		0.730 GeneticVariation UNIPROT Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. 15300847 2004
dbSNP: rs121965029
rs121965029
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0026708
Disease:
Mucopolysaccharidosis V 		0.730 GeneticVariation UNIPROT Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. 12559846 2003
dbSNP: rs121965029
rs121965029
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0026708
Disease:
Mucopolysaccharidosis V 		0.730 GeneticVariation BEFREE In addition we have also analysed the P533R mutation because of its frequency in the close Mediterranean country Italy and mutations R89Q and 678-7g->a because of its prevalence in European Scheie syndrome. 10215409 1998
dbSNP: rs121965029
rs121965029
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0026708
Disease:
Mucopolysaccharidosis V 		0.730 GeneticVariation UNIPROT Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S). 7550232 1995
dbSNP: rs121965029
rs121965029
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0026708
Disease:
Mucopolysaccharidosis V 		0.730 GeneticVariation UNIPROT Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene. 7550242 1995
dbSNP: rs121965029
rs121965029
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0026708
Disease:
Mucopolysaccharidosis V 		0.730 GeneticVariation UNIPROT R89Q and 678-7g-->a were found to be present in 40% of Scheie syndrome alleles. 8213840 1993
dbSNP: rs121965029
rs121965029
Entrez Id: 3425;10861
Gene Symbol: IDUA;SLC26A1
IDUA;SLC26A1
CUI: C0026708
Disease:
Mucopolysaccharidosis V 		0.730 GeneticVariation BEFREE R89Q and 678-7g-->a were found to be present in 40% of Scheie syndrome alleles. 8213840 1993