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:

rs121965021

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs121965027

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs121965033

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs148789453

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.720

GeneticVariation

UNIPROT

dbSNP:

rs121965029

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

IDUA;SLC26A1

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs121965032

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs200448421

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

dbSNP:

rs387906504

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs747981483

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

IDUA;SLC26A1

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

dbSNP:

rs794727239

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

IDUA;SLC26A1

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

dbSNP:

rs931627770

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

dbSNP:

rs992336192

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

dbSNP:

rs121965019

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

CausalMutation

CLINVAR

A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.

1301196

1992

dbSNP:

rs121965020

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

IDUA;SLC26A1

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

CausalMutation

CLINVAR

alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.

1301941

1992

dbSNP:

rs121965021

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

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:

rs121965033

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:

rs121965031

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.

8401515

1993

dbSNP:

rs1281475543

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.

8401515

1993

dbSNP:

rs369090960

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.

8401515

1993

dbSNP:

rs750496798

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.

8401515

1993

dbSNP:

rs762903007

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.

8401515

1993

dbSNP:

rs772416503

Entrez Id:	3425
Gene Symbol:	IDUA

IDUA

CUI:	C0086431
Disease:

Hurler-Scheie Syndrome

0.700

GeneticVariation

UNIPROT

Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.

8401515

1993

dbSNP:

rs121965021

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:

rs121965021

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