DisGeNET - a database of gene-disease associations

GALK1, galactokinase 1, 2584

N. diseases: 34; N. variants: 28

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:

rs121912467

Entrez Id:	2584;3691
Gene Symbol:	GALK1;ITGB4

GALK1;ITGB4

CUI:	C1856934
Disease:

Epidermolysis bullosa with pyloric atresia

0.800

GeneticVariation

UNIPROT

Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.

9546354

1998

dbSNP:

rs121912467

Entrez Id:	2584;3691
Gene Symbol:	GALK1;ITGB4

GALK1;ITGB4

CUI:	C1856934
Disease:

Epidermolysis bullosa with pyloric atresia

0.800

GeneticVariation

UNIPROT

Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.

9892956

1998

dbSNP:

rs121912467

Entrez Id:	2584;3691
Gene Symbol:	GALK1;ITGB4

GALK1;ITGB4

CUI:	C1856934
Disease:

Epidermolysis bullosa with pyloric atresia

0.800

GeneticVariation

UNIPROT

Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4).

9422533

1998

dbSNP:

rs121912467

Entrez Id:	2584;3691
Gene Symbol:	GALK1;ITGB4

GALK1;ITGB4

CUI:	C1856934
Disease:

Epidermolysis bullosa with pyloric atresia

0.800

GeneticVariation

UNIPROT

Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.

9792864

1998

dbSNP:

rs121912467

Entrez Id:	2584;3691
Gene Symbol:	GALK1;ITGB4

GALK1;ITGB4

CUI:	C1856934
Disease:

Epidermolysis bullosa with pyloric atresia

0.800

CausalMutation

CLINVAR

dbSNP:

rs767329054

Entrez Id:	2584
Gene Symbol:	GALK1

GALK1

CUI:	C0268155
Disease:

Deficiency of galactokinase

0.700

GeneticVariation

CLINVAR

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.

20405025

2010

dbSNP:

rs104894576

Entrez Id:	2584
Gene Symbol:	GALK1

GALK1

CUI:	C0268155
Disease:

Deficiency of galactokinase

0.700

GeneticVariation

UNIPROT

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.

15024738

2004

dbSNP:

rs1184406839

Entrez Id:	2584;3691
Gene Symbol:	GALK1;ITGB4

GALK1;ITGB4

CUI:	C0268155
Disease:

Deficiency of galactokinase

0.700

GeneticVariation

UNIPROT

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.

15024738

2004

dbSNP:

rs1555748926

Entrez Id:	2584
Gene Symbol:	GALK1

GALK1

CUI:	C0268155
Disease:

Deficiency of galactokinase

0.700

GeneticVariation

UNIPROT

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.

15024738

2004

dbSNP:

rs575139300

Entrez Id:	2584
Gene Symbol:	GALK1

GALK1

CUI:	C0268155
Disease:

Deficiency of galactokinase

0.700

GeneticVariation

UNIPROT

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.

15024738

2004

dbSNP:

rs754967473

Entrez Id:	2584;3691
Gene Symbol:	GALK1;ITGB4

GALK1;ITGB4

CUI:	C0268155
Disease:

Deficiency of galactokinase

0.700

GeneticVariation

UNIPROT

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.

15024738

2004

dbSNP:

rs104894576

Entrez Id:	2584
Gene Symbol:	GALK1

GALK1

CUI:	C0268155
Disease:

Deficiency of galactokinase

0.700

GeneticVariation

UNIPROT

Functional analysis of disease-causing mutations in human galactokinase.

12694189

2003

dbSNP:

rs1184406839

Entrez Id:	2584;3691
Gene Symbol:	GALK1;ITGB4

GALK1;ITGB4

CUI:	C0268155
Disease:

Deficiency of galactokinase

0.700

GeneticVariation

UNIPROT

Functional analysis of disease-causing mutations in human galactokinase.

12694189

2003

dbSNP:

rs1555748926

Entrez Id:	2584
Gene Symbol:	GALK1

GALK1

CUI:	C0268155
Disease:

Deficiency of galactokinase

0.700

GeneticVariation

UNIPROT

Functional analysis of disease-causing mutations in human galactokinase.

12694189

2003

dbSNP:

rs575139300

Entrez Id:	2584
Gene Symbol:	GALK1

GALK1

CUI:	C0268155
Disease:

Deficiency of galactokinase

0.700

GeneticVariation

UNIPROT

Functional analysis of disease-causing mutations in human galactokinase.

12694189

2003

dbSNP:

rs754967473

Entrez Id:	2584;3691
Gene Symbol:	GALK1;ITGB4

GALK1;ITGB4

CUI:	C0268155
Disease:

Deficiency of galactokinase

0.700

GeneticVariation

UNIPROT

Functional analysis of disease-causing mutations in human galactokinase.

12694189

2003

dbSNP:

rs762236241

Entrez Id:	2584;3691
Gene Symbol:	GALK1;ITGB4

GALK1;ITGB4

CUI:	C0080333
Disease:

Weber-Cockayne Syndrome

0.700

GeneticVariation

CLINVAR

Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.

12485428

2002

dbSNP:

rs762236241

Entrez Id:	2584;3691
Gene Symbol:	GALK1;ITGB4

GALK1;ITGB4

CUI:	C0268374
Disease:

Adult junctional epidermolysis bullosa (disorder)

0.700

GeneticVariation

CLINVAR

Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.

12485428

2002

dbSNP:

rs762236241

Entrez Id:	2584;3691
Gene Symbol:	GALK1;ITGB4

GALK1;ITGB4

CUI:	C1856934
Disease:

Epidermolysis bullosa with pyloric atresia

0.700

GeneticVariation

CLINVAR

Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.

12485428

2002

dbSNP:

rs104894576

Entrez Id:	2584
Gene Symbol:	GALK1

GALK1

CUI:	C0268155
Disease:

Deficiency of galactokinase

0.700

GeneticVariation

UNIPROT

"A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, ""Osaka,"" in Asians."

11231902

2001

dbSNP:

rs104894576

Entrez Id:	2584
Gene Symbol:	GALK1

GALK1

CUI:	C0268155
Disease:

Deficiency of galactokinase

0.700

GeneticVariation

UNIPROT

Novel mutations in the GALK1 gene in patients with galactokinase deficiency.

11139256

2001

dbSNP:

rs1184406839

Entrez Id:	2584;3691
Gene Symbol:	GALK1;ITGB4

GALK1;ITGB4

CUI:	C0268155
Disease:

Deficiency of galactokinase

0.700

GeneticVariation

UNIPROT

"A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, ""Osaka,"" in Asians."

11231902

2001

dbSNP:

rs1184406839

Entrez Id:	2584;3691
Gene Symbol:	GALK1;ITGB4

GALK1;ITGB4

CUI:	C0268155
Disease:

Deficiency of galactokinase

0.700

GeneticVariation

UNIPROT

Novel mutations in the GALK1 gene in patients with galactokinase deficiency.

11139256

2001

dbSNP:

rs1555748926

Entrez Id:	2584
Gene Symbol:	GALK1

GALK1

CUI:	C0268155
Disease:

Deficiency of galactokinase

0.700

GeneticVariation

UNIPROT

"A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, ""Osaka,"" in Asians."

11231902

2001

dbSNP:

rs1555748926

Entrez Id:	2584
Gene Symbol:	GALK1

GALK1

CUI:	C0268155
Disease:

Deficiency of galactokinase

0.700

GeneticVariation

UNIPROT

Novel mutations in the GALK1 gene in patients with galactokinase deficiency.

11139256

2001