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: rs148038936
rs148038936
Entrez Id: 3689;107987303
Gene Symbol: ITGB2;LOC107987303
ITGB2;LOC107987303
CUI: C0004364
Disease:
Autoimmune Diseases 		0.010 GeneticVariation BEFREE Recently a polymorphism (C77G) in exon 4 of CD45 causing abnormal CD45 splicing and a point mutation affecting CD45 dimerization were implicated in multiple sclerosis in humans and lymphoproliferation and autoimmunity in mice respectively. 14630980 2004
dbSNP: rs137852609
rs137852609
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0272187
Disease:
Congenital leukocyte adherence deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs137852610
rs137852610
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0272187
Disease:
Congenital leukocyte adherence deficiency 		G 0.700 CausalMutation CLINVAR
dbSNP: rs137852611
rs137852611
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0272187
Disease:
Congenital leukocyte adherence deficiency 		G 0.700 CausalMutation CLINVAR
dbSNP: rs137852612
rs137852612
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0272187
Disease:
Congenital leukocyte adherence deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137852613
rs137852613
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0272187
Disease:
Congenital leukocyte adherence deficiency 		C 0.700 CausalMutation CLINVAR
dbSNP: rs137852614
rs137852614
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0272187
Disease:
Congenital leukocyte adherence deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs137852615
rs137852615
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0272187
Disease:
Congenital leukocyte adherence deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137852616
rs137852616
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0272187
Disease:
Congenital leukocyte adherence deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137852617
rs137852617
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0272187
Disease:
Congenital leukocyte adherence deficiency 		G 0.700 CausalMutation CLINVAR
dbSNP: rs137852618
rs137852618
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0272187
Disease:
Congenital leukocyte adherence deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs201752283
rs201752283
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0272187
Disease:
Congenital leukocyte adherence deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387906411
rs387906411
Entrez Id: 3689;107987303
Gene Symbol: ITGB2;LOC107987303
ITGB2;LOC107987303
CUI: C0272187
Disease:
Congenital leukocyte adherence deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs235326
rs235326
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0034152
Disease:
Henoch-Schoenlein Purpura 		0.010 GeneticVariation BEFREE We aimed to assess the influence of CD18 AvaII polymorphism (rs235326, C->T) in the incidence of HSP and determine its possible implication in severe systemic complications by studying 73 patients with HSP and 156 controls in China. 21269583 2011
dbSNP: rs137852609
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
rs137852609
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: rs137852609
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
rs137852609
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: rs137852609
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: rs137852609
rs137852609
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: rs137852609
rs137852609
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: rs137852609
rs137852609
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: rs137852609
rs137852609
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: rs137852609
rs137852609
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2
CUI: C0398738
Disease:
Leukocyte adhesion deficiency type 1 		A 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
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