ITGA2B, integrin subunit alpha 2b, 3674

N. diseases: 20; N. variants: 30
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 Biomarker disease GENOMICS_ENGLAND Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype. 24498605 2013
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 GeneticVariation disease UNIPROT Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. 21454453 2011
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 GeneticVariation disease UNIPROT R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome. 9834222 1998
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 Biomarker disease GENOMICS_ENGLAND R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome. 9834222 1998
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		0.900 Biomarker disease CTD_human
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 Biomarker disease GENOMICS_ENGLAND One patient, who showed Glanzmann thrombasthenia-like marked reduction in surface αIIbβ3 expression (3-11% of normal control), was a compound heterozygote with ITGA2B p.Gly991Cys and a novel nonsense mutation, ITGA2B p.Arg422*. 24498605 2013
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GermlineCausalMutation disease ORPHANET Transmitted by autosomal recessive inheritance, platelets in GT have quantitative or qualitative deficiencies of the fibrinogen receptor, αIIbβ3, an integrin coded by the ITGA2B and ITGB3 genes. 21917754 2011
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease UNIPROT AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. 20020534 2010
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 Biomarker disease CLINGEN AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. 20020534 2010
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease UNIPROT Type II Glanzmann thrombasthenia in a compound heterozygote for the alpha IIb gene. A novel missense mutation in exon 27. 17018384 2006
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 Biomarker disease CLINGEN Platelet adhesion via glycoprotein IIb integrin is critical for atheroprogression and focal cerebral ischemia: an in vivo study in mice lacking glycoprotein IIb. 16103235 2005
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease UNIPROT A novel Phe171Cys mutation in integrin alpha causes Glanzmann thrombasthenia by abrogating alphabeta complex formation. 15219201 2004
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease UNIPROT We report triple heterozygosity in the integrin alpha(IIb) subunit in a 5-year-old Canadian girl with Glanzmann's thrombasthenia. 15099289 2004
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease UNIPROT Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesis. 12424194 2003
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease UNIPROT A naturally occurring Tyr143His alpha IIb mutation abolishes alpha IIb beta 3 function for soluble ligands but retains its ability for mediating cell adhesion and clot retraction: comparison with other mutations causing ligand-binding defects. 12506038 2003
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease UNIPROT A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia. 12181054 2002
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease UNIPROT Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. 12083483 2002
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease UNIPROT Among these genetic events, three were directly responsible for Glanzmann's thrombasthenia, four were localised in regions known to be involved in GPIIb-IIIa complex expression and three mutations were potentially responsible for Glanzmann's thrombasthenia. 11798398 2001
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease UNIPROT A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to alphaIIbbeta3. 10607701 2000
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease UNIPROT Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes. 9920835 1999
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 Biomarker disease GENOMICS_ENGLAND R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome. 9834222 1998
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease UNIPROT Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia. 9734640 1998
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 Biomarker disease CLINGEN Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa. 9473221 1998
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease UNIPROT Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa. 9473221 1998
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		0.800 GeneticVariation disease UNIPROT A Gln747-->Pro substitution in the IIb subunit is responsible for a moderate IIbbeta3 deficiency in Glanzmann thrombasthenia. 9763559 1998