Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
0.450 GeneticVariation phenotype BEFREE This is the first report of a family with AD thrombocytopenia with normal platelet size resulting from mutation in ITGA2B. 31119735 2019
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
0.450 CausalMutation phenotype CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
0.450 GeneticVariation phenotype BEFREE Mean platelet volume was measured in thrombocytopenia with different genetic aetiologies, bilallelic BSS (bBSS) (n = 1), monoallelic BSS (mBSS) (n = 2), MYH9-related disorders (MYH9-RD) (n = 11), GFI1B-related thrombocytopenia (RT) (n = 15), FLI1-RT (n = 2), TUBB1-RT (n = 3), ITGA2B/ITGB3-RT (n = 1), RUNX1-RT (n = 2) and controls (n = 54). bBSS and 82% of MYH9-RD samples had MPD >4 μm which correlated with "IT with giant platelets." 29143464 2018
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
0.450 AlteredExpression phenotype BEFREE The pathologies most at risk correspond to Glanzmann's thrombasthenia, Bernard-Soulier syndrome, severe thrombocytopenia (<40,000 platelets/μL) and signalling protein abnormalities affecting the activation of GPIIb-IIIa, a membrane glycoprotein essential for platelet aggregation. 30077511 2018
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
0.450 Biomarker phenotype CTD_human Ceftriaxone causes drug-induced immune thrombocytopenia and hemolytic anemia: characterization of targets on platelets and red blood cells. 15225244 2004
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
0.450 Biomarker phenotype BEFREE Significant alterations of platelet membrane glycoproteins during GPIIb-IIIa antagonism might contribute to development of acute profound thrombocytopenia. 9869173 1998
Entrez Id: 3674
Gene Symbol: ITGA2B
ITGA2B
0.450 Biomarker phenotype BEFREE Thus, srGPIIb-IIIa spontaneously assumes an active, ligand-binding conformation and contains epitopes for all monoclonal and human antibodies tested to date. srGPIIb-IIIa can be produced in large quantities, can readily be modified by site-directed mutagenesis, and should facilitate identification of epitopes recognized by GPIIb-IIIa-specific antibodies, study of the mechanism(s) by which certain drugs promote antibody binding to GPIIb-IIIa in drug-induced thrombocytopenia and structure-function relationships of GPIIb-IIIa. 9731063 1998