rs137852910, ITGA2B

N. diseases: 1
Disease: Thrombasthenia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation UNIPROT AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. 20020534 2010
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation UNIPROT Type II Glanzmann thrombasthenia in a compound heterozygote for the alpha IIb gene. A novel missense mutation in exon 27. 17018384 2006
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation UNIPROT Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia. 15099289 2004
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation UNIPROT A novel Phe171Cys mutation in integrin alpha causes Glanzmann thrombasthenia by abrogating alphabeta complex formation. 15219201 2004
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation UNIPROT Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesis. 12424194 2003
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation 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
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation UNIPROT Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. 12083483 2002
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation UNIPROT A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia. 12181054 2002
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation UNIPROT Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes. 11798398 2001
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation UNIPROT A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to alphaIIbbeta3. 10607701 2000
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation 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
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation UNIPROT Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic phenotypes in four Japanese patients. 9722314 1998
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation UNIPROT Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa. 9473221 1998
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation UNIPROT A Gln747-->Pro substitution in the IIb subunit is responsible for a moderate IIbbeta3 deficiency in Glanzmann thrombasthenia. 9763559 1998
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation UNIPROT Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia. 9734640 1998
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation UNIPROT Hematologically important mutations: Glanzmann thrombasthenia. 9215749 1997
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation UNIPROT Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alpha IIb: demonstration of the importance of calcium-binding domains in the conformation of alpha IIb beta 3. 8704171 1996
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation UNIPROT Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association. 7706461 1995
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation UNIPROT Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. 8282784 1994
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 GeneticVariation UNIPROT A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complex. 7508443 1994
Thrombasthenia
CUI: C0040015
Disease: Thrombasthenia
0.800 CausalMutation CLINVAR