ITGB2, integrin subunit beta 2, 3689

N. diseases: 340; N. variants: 31
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852609
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
rs137852615
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Identification of two molecular defects in a child with leukocyte adherence deficiency. 1347532 1992
dbSNP: rs137852615
rs137852615
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency. 1968911 1990
dbSNP: rs137852615
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
rs137852615
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates. 1694220 1990
dbSNP: rs137852615
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
rs137852615
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs137852615
rs137852615
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Leukocyte adhesion deficiency: identification of novel mutations in two Japanese patients with a severe form. 1590804 1992
dbSNP: rs137852615
rs137852615
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Genetic cause of leukocyte adhesion molecule deficiency. Abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta 2 integrins. 1346613 1992
dbSNP: rs137852615
rs137852615
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Molecular basis for a severe case of leukocyte adhesion deficiency. 1352501 1992
dbSNP: rs137852615
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: rs137852615
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: rs137852615
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
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
rs137852616
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Molecular basis for a severe case of leukocyte adhesion deficiency. 1352501 1992
dbSNP: rs137852616
rs137852616
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		T 0.800 CausalMutation CLINVAR Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1). 17875809 2008
dbSNP: rs137852616
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
rs137852616
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Leukocyte adhesion deficiency: identification of novel mutations in two Japanese patients with a severe form. 1590804 1992
dbSNP: rs137852616
rs137852616
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency. 1968911 1990
dbSNP: rs137852616
rs137852616
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		T 0.800 CausalMutation CLINVAR A point mutation associated with leukocyte adhesion deficiency type 1 of moderate severity. 7686755 1993
dbSNP: rs137852616
rs137852616
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		T 0.800 CausalMutation CLINVAR Molecular characterization of leukocyte adhesion deficiency in six patients. 7705401 1995
dbSNP: rs137852616
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
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: rs137852616
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: rs137852616
rs137852616
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		0.800 GeneticVariation UNIPROT Genetic cause of leukocyte adhesion molecule deficiency. Abnormal splicing and a missense mutation in a conserved region of CD18 impair cell surface expression of beta 2 integrins. 1346613 1992