DisGeNET - a database of gene-disease associations

ITGB4, integrin subunit beta 4, 3691

N. diseases: 171; N. variants: 29

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:

rs145976111

Entrez Id:	3691
Gene Symbol:	ITGB4

ITGB4

CUI:	C0027819
Disease:

Neuroblastoma

0.010

GeneticVariation

BEFREE

The effect of rs147480547 and rs145976111 was studied in human neuroblastoma SH-SY5Y cells.

29526452

2018

dbSNP:

rs145976111

Entrez Id:	3691
Gene Symbol:	ITGB4

ITGB4

CUI:	C0700095
Disease:

Central neuroblastoma

0.010

GeneticVariation

BEFREE

The effect of rs147480547 and rs145976111 was studied in human neuroblastoma SH-SY5Y cells.

29526452

2018

dbSNP:

rs145976111

Entrez Id:	3691
Gene Symbol:	ITGB4

ITGB4

CUI:	C4086165
Disease:

Childhood Neuroblastoma

0.010

GeneticVariation

BEFREE

The effect of rs147480547 and rs145976111 was studied in human neuroblastoma SH-SY5Y cells.

29526452

2018

dbSNP:

rs147480547

Entrez Id:	3691
Gene Symbol:	ITGB4

ITGB4

CUI:	C4086165
Disease:

Childhood Neuroblastoma

0.010

GeneticVariation

BEFREE

The effect of rs147480547 and rs145976111 was studied in human neuroblastoma SH-SY5Y cells.

29526452

2018

dbSNP:

rs147480547

Entrez Id:	3691
Gene Symbol:	ITGB4

ITGB4

CUI:	C0700095
Disease:

Central neuroblastoma

0.010

GeneticVariation

BEFREE

The effect of rs147480547 and rs145976111 was studied in human neuroblastoma SH-SY5Y cells.

29526452

2018

dbSNP:

rs147480547

Entrez Id:	3691
Gene Symbol:	ITGB4

ITGB4

CUI:	C0027819
Disease:

Neuroblastoma

0.010

GeneticVariation

BEFREE

The effect of rs147480547 and rs145976111 was studied in human neuroblastoma SH-SY5Y cells.

29526452

2018

dbSNP:

rs750367954

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

GALK1;ITGB4

CUI:	C0036341
Disease:

Schizophrenia

0.010

GeneticVariation

BEFREE

A gene-wise weighted burden test was performed on a trio sample of schizophrenia cases and their parents. rs750367954 was seen in two Swedish cases and in no controls.

29526452

2018

dbSNP:

rs820164

Entrez Id:	3691
Gene Symbol:	ITGB4

ITGB4

CUI:	C0428472
Disease:

Serum HDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs820164

Entrez Id:	3691
Gene Symbol:	ITGB4

ITGB4

CUI:	C0392885
Disease:

High density lipoprotein measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs743554

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

GALK1;ITGB4

CUI:	C0009402
Disease:

Colorectal Carcinoma

0.010

GeneticVariation

BEFREE

We found that the AA genotype of the rs743554 polymorphism in the ITGB4 gene and the T allele of the rs1051208 polymorphism of the RAF1 gene were associated with the risk of CRC in females; however, after Bonferroni's correction we found that they were non-significant.

22939228

2012

dbSNP:

rs743554

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

GALK1;ITGB4

CUI:	C0027651
Disease:

Neoplasms

0.010

GeneticVariation

BEFREE

The strongest association was observed between the A allele of the SNP rs743554 in the ITGB4 gene and oestrogen receptor-negative tumours [odds ratio 2.09, 95% confidence intervals (CIs) 1.19-3.67].

18550570

2008

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:

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:

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:

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:

rs121912461

Entrez Id:	3691
Gene Symbol:	ITGB4

ITGB4

CUI:	C1856934
Disease:

Epidermolysis bullosa with pyloric atresia

0.810

GeneticVariation

UNIPROT

Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.

11328943

2001

dbSNP:

rs121912461

Entrez Id:	3691
Gene Symbol:	ITGB4

ITGB4

CUI:	C1856934
Disease:

Epidermolysis bullosa with pyloric atresia

0.810

GeneticVariation

UNIPROT

Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.

11251584

2001

dbSNP:

rs121912463

Entrez Id:	3691
Gene Symbol:	ITGB4

ITGB4

CUI:	C1856934
Disease:

Epidermolysis bullosa with pyloric atresia

0.800

GeneticVariation

UNIPROT

Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.

11251584

2001

dbSNP:

rs121912463

Entrez Id:	3691
Gene Symbol:	ITGB4

ITGB4

CUI:	C1856934
Disease:

Epidermolysis bullosa with pyloric atresia

0.800

GeneticVariation

UNIPROT

Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.

11328943

2001

dbSNP:

rs121912465

Entrez Id:	3691
Gene Symbol:	ITGB4

ITGB4

CUI:	C1856934
Disease:

Epidermolysis bullosa with pyloric atresia

0.800

GeneticVariation

UNIPROT

Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.

11251584

2001

dbSNP:

rs121912465

Entrez Id:	3691
Gene Symbol:	ITGB4

ITGB4

CUI:	C1856934
Disease:

Epidermolysis bullosa with pyloric atresia

0.800

GeneticVariation

UNIPROT

Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.

11328943

2001

dbSNP:

rs121912467

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

GALK1;ITGB4

CUI:	C1856934
Disease:

Epidermolysis bullosa with pyloric atresia

0.800

GeneticVariation

UNIPROT

Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.

11251584

2001