DisGeNET - a database of gene-disease associations

IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110

Disease: Hurler-Scheie Syndrome ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121965019

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

CausalMutation

CLINVAR

Worldwide distribution of common IDUA pathogenic variants.

29393969

2018

dbSNP:

rs121965020

Entrez Id:	3425;10861
Gene Symbol:	IDUA;SLC26A1

IDUA;SLC26A1

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

CausalMutation

CLINVAR

Worldwide distribution of common IDUA pathogenic variants.

29393969

2018

dbSNP:

rs121965019

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

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:

rs121965019

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

CausalMutation

CLINVAR

Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

23786846

2013

dbSNP:

rs121965019

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

CausalMutation

CLINVAR

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

22976768

2013

dbSNP:

rs121965020

Entrez Id:	3425;10861
Gene Symbol:	IDUA;SLC26A1

IDUA;SLC26A1

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

CausalMutation

CLINVAR

Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

23786846

2013

dbSNP:

rs121965020

Entrez Id:	3425;10861
Gene Symbol:	IDUA;SLC26A1

IDUA;SLC26A1

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

CausalMutation

CLINVAR

Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

22976768

2013

dbSNP:

rs121965031

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

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:

rs1281475543

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

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:

rs369090960

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

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:

rs750496798

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

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:

rs762903007

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

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:

rs772416503

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

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:

rs121965019

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

CausalMutation

CLINVAR

Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.

19751987

2010

dbSNP:

rs121965031

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

15300847

2004

dbSNP:

rs1281475543

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

15300847

2004

dbSNP:

rs369090960

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

15300847

2004

dbSNP:

rs750496798

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

15300847

2004

dbSNP:

rs762903007

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

15300847

2004

dbSNP:

rs772416503

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

15300847

2004

dbSNP:

rs121965031

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

12559846

2003

dbSNP:

rs1281475543

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

12559846

2003

dbSNP:

rs369090960

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

12559846

2003

dbSNP:

rs750496798

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

12559846

2003

dbSNP:

rs762903007

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

12559846

2003