DisGeNET - a database of gene-disease associations

ITGB2, integrin subunit beta 2, 3689

N. diseases: 340; N. variants: 31

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:

rs137852609

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient.

20529581

2010

dbSNP:

rs137852609

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene.

20549317

2010

dbSNP:

rs137852615

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene.

20549317

2010

dbSNP:

rs137852615

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient.

20529581

2010

dbSNP:

rs137852616

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene.

20549317

2010

dbSNP:

rs137852616

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient.

20529581

2010

dbSNP:

rs137852618

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene.

20549317

2010

dbSNP:

rs137852618

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient.

20529581

2010

dbSNP:

rs137852616

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

CausalMutation

CLINVAR

Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1).

17875809

2008

dbSNP:

rs137852609

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

CausalMutation

CLINVAR

Two Novel Frame Shift, Recurrent and De Novo Mutations in the ITGB2 (CD18) Gene Causing Leukocyte Adhesion Deficiency in a Highly Inbred North African Population.

12488604

2001

dbSNP:

rs137852616

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

CausalMutation

CLINVAR

Two Novel Frame Shift, Recurrent and De Novo Mutations in the ITGB2 (CD18) Gene Causing Leukocyte Adhesion Deficiency in a Highly Inbred North African Population.

12488604

2001

dbSNP:

rs137852609

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1.

9884339

1999

dbSNP:

rs137852615

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1.

9884339

1999

dbSNP:

rs137852616

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1.

9884339

1999

dbSNP:

rs137852618

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1.

9884339

1999

dbSNP:

rs137852616

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

CausalMutation

CLINVAR

Molecular characterization of leukocyte adhesion deficiency in six patients.

7705401

1995

dbSNP:

rs137852609

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity.

7686755

1993

dbSNP:

rs137852609

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

Familial genetic defect in a case of leukocyte adhesion deficiency.

7509236

1993

dbSNP:

rs137852615

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity.

7686755

1993

dbSNP:

rs137852615

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

Familial genetic defect in a case of leukocyte adhesion deficiency.

7509236

1993

dbSNP:

rs137852616

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

Familial genetic defect in a case of leukocyte adhesion deficiency.

7509236

1993

dbSNP:

rs137852616

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity.

7686755

1993

dbSNP:

rs137852616

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

CausalMutation

CLINVAR

A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity.

7686755

1993

dbSNP:

rs137852618

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity.

7686755

1993

dbSNP:

rs137852618

Entrez Id:	3689
Gene Symbol:	ITGB2

ITGB2

CUI:	C0398738
Disease:

Leukocyte adhesion deficiency type 1

0.800

GeneticVariation

UNIPROT

Familial genetic defect in a case of leukocyte adhesion deficiency.

7509236

1993